KCNQ1_HUMAN
ID KCNQ1_HUMAN Reviewed; 676 AA.
AC P51787; O00347; O60607; O94787; Q14D14; Q7Z6G9; Q92960; Q9UMN8; Q9UMN9;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 15-JUL-1999, sequence version 3.
DT 03-AUG-2022, entry version 225.
DE RecName: Full=Potassium voltage-gated channel subfamily KQT member 1 {ECO:0000305};
DE AltName: Full=IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 {ECO:0000305|PubMed:9312006};
DE AltName: Full=KQT-like 1 {ECO:0000305};
DE AltName: Full=Voltage-gated potassium channel subunit Kv7.1 {ECO:0000305|PubMed:20533308};
GN Name=KCNQ1 {ECO:0000312|HGNC:HGNC:6294};
GN Synonyms=KCNA8 {ECO:0000312|HGNC:HGNC:6294},
GN KCNA9 {ECO:0000312|HGNC:HGNC:6294}, KVLQT1 {ECO:0000303|PubMed:9312006};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND CHARACTERIZATION OF
RP VARIANT LQT1 CYS-555.
RC TISSUE=Kidney;
RX PubMed=9312006; DOI=10.1093/emboj/16.17.5472;
RA Chouabe C., Neyroud N., Guicheney P., Lazdunski M., Romey G., Barhanin J.;
RT "Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and
RT Lange-Nielsen inherited cardiac arrhythmias.";
RL EMBO J. 16:5472-5479(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND FUNCTION (ISOFORM 2).
RC TISSUE=Heart;
RX PubMed=9305853; DOI=10.1074/jbc.272.39.24109;
RA Jiang M., Tseng-Crank J., Tseng G.-N.;
RT "Suppression of slow delayed rectifier current by a truncated isoform of
RT KvLQT1 cloned from normal human heart.";
RL J. Biol. Chem. 272:24109-24112(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANTS LQT1
RP ASN-242; HIS-250; SER-314 AND MET-587, AND VARIANT SER-643.
RX PubMed=9799083; DOI=10.1007/s004390050819;
RA Itoh T., Tanaka T., Nagai R., Kikuchi K., Ogawa S., Okada S., Yamagata S.,
RA Yano K., Yazaki Y., Nakamura Y.;
RT "Genomic organization and mutational analysis of KVLQT1, a gene responsible
RT for familial long QT syndrome.";
RL Hum. Genet. 103:290-294(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), AND VARIANTS LQT1
RP MET-587 AND HIS-591.
RX PubMed=10024302; DOI=10.1161/01.res.84.3.290;
RA Neyroud N., Richard P., Vignier N., Donger C., Denjoy I., Demay L.,
RA Shkolnikova M., Pesce R., Chevalier P., Hainque B., Coumel P., Schwartz K.,
RA Guicheney P.;
RT "Genomic organization of the KCNQ1 K+ channel gene and identification of C-
RT terminal mutations in the long-QT syndrome.";
RL Circ. Res. 84:290-297(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RA Seebohm G.;
RL Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Heart;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-129, AND FUNCTION.
RX PubMed=9108097; DOI=10.1073/pnas.94.8.4017;
RA Yang W.-P., Levesque P.C., Little W.A., Conder M.L., Shalaby F.Y.,
RA Blanar M.A.;
RT "KvLQT1, a voltage-gated potassium channel responsible for human cardiac
RT arrhythmias.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:4017-4021(1997).
RN [11]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 107-676, AND FUNCTION.
RC TISSUE=Pancreas;
RX PubMed=8900283; DOI=10.1038/384080a0;
RA Sanguinetti M.C., Curran M.E., Zou A., Shen J., Spector P.S.,
RA Atkinson D.L., Keating M.T.;
RT "Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks)
RT potassium channel.";
RL Nature 384:80-83(1996).
RN [12]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 130-676, AND VARIANTS LQT1.
RX PubMed=8528244; DOI=10.1038/ng0196-17;
RA Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M.,
RA Vanraay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T.,
RA Schwartz P.J., Towbin J.A., Moss A.J., Atkinson D.L., Landes G.M.,
RA Connors T.D., Keating M.T.;
RT "Positional cloning of a novel potassium channel gene: KVLQT1 mutations
RT cause cardiac arrhythmias.";
RL Nat. Genet. 12:17-23(1996).
RN [13]
RP IDENTIFICATION OF C-TERMINAL ASSEMBLY DOMAIN.
RX PubMed=10654932; DOI=10.1093/emboj/19.3.332;
RA Schmitt N., Schwarz M., Peretz A., Abitbol I., Attali B., Pongs O.;
RT "A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1
RT channel impairs subunit assembly.";
RL EMBO J. 19:332-340(2000).
RN [14]
RP INTERACTION WITH KCNE2, AND FUNCTION.
RX PubMed=11101505; DOI=10.1093/emboj/19.23.6326;
RA Tinel N., Diochot S., Borsotto M., Lazdunski M., Barhanin J.;
RT "KCNE2 confers background current characteristics to the cardiac KCNQ1
RT potassium channel.";
RL EMBO J. 19:6326-6330(2000).
RN [15]
RP FUNCTION.
RX PubMed=10713961; DOI=10.1111/j.1469-7793.2000.t01-2-00349.x;
RA Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Jentsch T.J.,
RA Brown D.A.;
RT "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via
RT M1 muscarinic acetylcholine receptors.";
RL J. Physiol. (Lond.) 522:349-355(2000).
RN [16]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=10646604; DOI=10.1038/35003200;
RA Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R.,
RA Jentsch T.J.;
RT "A constitutively open potassium channel formed by KCNQ1 and KCNE3.";
RL Nature 403:196-199(2000).
RN [17]
RP FUNCTION.
RX PubMed=12324418; DOI=10.1016/s0006-3495(02)73961-1;
RA Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A.,
RA Olesen S.P.;
RT "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1
RT current.";
RL Biophys. J. 83:1997-2006(2002).
RN [18]
RP INTERACTION WITH AKAP9, PHOSPHORYLATION AT SER-27, CHARACTERIZATION OF
RP VARIANT LQT1 ASP-589, AND MUTAGENESIS OF SER-27; LEU-602 AND ILE-609.
RX PubMed=11799244; DOI=10.1126/science.1066843;
RA Marx S.O., Kurokawa J., Reiken S., Motoike H., D'Armiento J., Marks A.R.,
RA Kass R.S.;
RT "Requirement of a macromolecular signaling complex for beta adrenergic
RT receptor modulation of the KCNQ1-KCNE1 potassium channel.";
RL Science 295:496-499(2002).
RN [19]
RP FUNCTION, DOMAIN, INTERACTION WITH KCNE4, AND MUTAGENESIS OF VAL-324;
RP LYS-326; THR-327; ILE-328; SER-338 AND PHE-340.
RX PubMed=19687231; DOI=10.1085/jgp.200910234;
RA Vanoye C.G., Welch R.C., Daniels M.A., Manderfield L.J., Tapper A.R.,
RA Sanders C.R., George A.L. Jr.;
RT "Distinct subdomains of the KCNQ1 S6 segment determine channel modulation
RT by different KCNE subunits.";
RL J. Gen. Physiol. 134:207-217(2009).
RN [20]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH KCNE1; KCNE2; KCNE3; KCNE4 AND
RP KCNE5.
RX PubMed=20533308; DOI=10.1002/jcp.22265;
RA Roura-Ferrer M., Sole L., Oliveras A., Dahan R., Bielanska J.,
RA Villarroel A., Comes N., Felipe A.;
RT "Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface
RT targeting.";
RL J. Cell. Physiol. 225:692-700(2010).
RN [21]
RP SUBCELLULAR LOCATION.
RX PubMed=21228319; DOI=10.1152/ajpcell.00390.2010;
RA Andersen M.N., Olesen S.P., Rasmussen H.B.;
RT "Kv7.1 surface expression is regulated by epithelial cell polarization.";
RL Am. J. Physiol. 300:C814-C824(2011).
RN [22]
RP INTERACTION WITH NEDD4L AND USP2, UBIQUITINATED, DEUBIQUITINATED, AND
RP SUBCELLULAR LOCATION.
RX PubMed=22024150; DOI=10.1016/j.hrthm.2011.10.026;
RA Krzystanek K., Rasmussen H.B., Grunnet M., Staub O., Olesen S.P.,
RA Abriel H., Jespersen T.;
RT "Deubiquitylating enzyme USP2 counteracts Nedd4-2-mediated downregulation
RT of KCNQ1 potassium channels.";
RL Heart Rhythm 9:440-448(2012).
RN [23]
RP INTERACTION WITH AP2M1 AND NEDD4L, AND SUBCELLULAR LOCATION.
RX PubMed=23529131; DOI=10.1113/jphysiol.2013.251678;
RA Rapetti-Mauss R., O'Mahony F., Sepulveda F.V., Urbach V., Harvey B.J.;
RT "Oestrogen promotes KCNQ1 potassium channel endocytosis and postendocytic
RT trafficking in colonic epithelium.";
RL J. Physiol. (Lond.) 591:2813-2831(2013).
RN [24]
RP INTERACTION WITH KCNQ5, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=24855057; DOI=10.1161/atvbaha.114.303801;
RA Oliveras A., Roura-Ferrer M., Sole L., de la Cruz A., Prieto A.,
RA Etxebarria A., Manils J., Morales-Cano D., Condom E., Soler C.,
RA Cogolludo A., Valenzuela C., Villarroel A., Comes N., Felipe A.;
RT "Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on
RT vascular muscle physiology.";
RL Arterioscler. Thromb. Vasc. Biol. 34:1522-1530(2014).
RN [25]
RP X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 574-622, INTERACTION WITH CALM,
RP SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-589; ALA-590 AND ASN-593,
RP CHARACTERIZATION OF VARIANT LQT1 ASP-589, AND TETRAMERIZATION.
RX PubMed=18165683; DOI=10.1074/jbc.m707541200;
RA Wiener R., Haitin Y., Shamgar L., Fernandez-Alonso M.C., Martos A.,
RA Chomsky-Hecht O., Rivas G., Attali B., Hirsch J.A.;
RT "The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit
RT assembly and protein interaction.";
RL J. Biol. Chem. 283:5815-5830(2008).
RN [26]
RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 583-611, SUBUNIT, AND COILED-COIL.
RX PubMed=19693805; DOI=10.1002/pro.224;
RA Xu Q., Minor D.L. Jr.;
RT "Crystal structure of a trimeric form of the K(V)7.1 (KCNQ1) A-domain tail
RT coiled-coil reveals structural plasticity and context dependent changes in
RT a putative coiled-coil trimerization motif.";
RL Protein Sci. 18:2100-2114(2009).
RN [27] {ECO:0007744|PDB:4UMO, ECO:0007744|PDB:4V0C}
RP X-RAY CRYSTALLOGRAPHY (2.86 ANGSTROMS) OF 352-539 IN COMPLEX WITH CALM AND
RP CALCIUM, FUNCTION, INTERACTION WITH CALM, DOMAIN, AND MUTAGENESIS OF
RP ILE-375 AND VAL-516.
RX PubMed=25441029; DOI=10.1016/j.str.2014.07.016;
RA Sachyani D., Dvir M., Strulovich R., Tria G., Tobelaim W., Peretz A.,
RA Pongs O., Svergun D., Attali B., Hirsch J.A.;
RT "Structural basis of a Kv7.1 potassium channel gating module: studies of
RT the intracellular c-terminal domain in complex with calmodulin.";
RL Structure 22:1582-1594(2014).
RN [28]
RP CHARACTERIZATION OF VARIANTS LQT1 PRO-178; PHE-273 AND ILE-312.
RX PubMed=9323054; DOI=10.1161/01.cir.96.6.1733;
RA Shalaby F.Y., Levesque P.C., Yang W.-P., Little W.A., Conder M.L.,
RA Jenkins-West T., Blanar M.A.;
RT "Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT
RT syndrome.";
RL Circulation 96:1733-1736(1997).
RN [29]
RP REVIEW ON VARIANTS.
RX PubMed=10704188;
RX DOI=10.1002/(sici)1096-8628(19990924)89:3<137::aid-ajmg4>3.0.co;2-c;
RA Tranebjaerg L., Bathen J., Tyson J., Bitner-Glindzicz M.;
RT "Jervell and Lange-Nielsen syndrome: a Norwegian perspective.";
RL Am. J. Med. Genet. 89:137-146(1999).
RN [30]
RP VARIANTS LQT1 SER-314 AND VAL-341.
RX PubMed=8872472; DOI=10.1093/hmg/5.9.1319;
RA Russell M.W., Dick M. II, Collins F.S., Brody L.C.;
RT "KVLQT1 mutations in three families with familial or sporadic long QT
RT syndrome.";
RL Hum. Mol. Genet. 5:1319-1324(1996).
RN [31]
RP VARIANT LQT1 VAL-341.
RX PubMed=8818942; DOI=10.1136/jmg.33.7.567;
RA de Jager T., Corbett C.H., Badenhorst J.C., Brink P.A., Corfield V.A.;
RT "Evidence of a long QT founder gene with varying phenotypic expression in
RT South African families.";
RL J. Med. Genet. 33:567-573(1996).
RN [32]
RP VARIANTS LQT1 MET-254 AND MET-417.
RA Wedekind H., Schulze-Bahr E., Lange S., Rubie C., Haverkamp W., Hoerdt M.,
RA Borggrefe M., Assmann G., Breithardt G., Funke H.;
RT "A severe form of long-QT syndrome caused by KVLQT1 mutations located in
RT cis (Abstract #2051).";
RL Am. J. Hum. Genet. Suppl. 61:A350-A350(1997).
RN [33]
RP VARIANTS LQT1 THR-178; MET-313; ARG-325 AND PRO-366.
RX PubMed=9024139; DOI=10.1161/01.cir.95.3.565;
RA Tanaka T., Nagai R., Tomoike H., Takata S., Yano K., Yabuta K., Haneda N.,
RA Nakano O., Shibata A., Sawayama T., Kasai H., Yazaki Y., Nakamura Y.;
RT "Four novel KVLQT1 and four novel HERG mutations in familial long-QT
RT syndrome.";
RL Circulation 95:565-567(1997).
RN [34]
RP VARIANTS LQT1.
RX PubMed=9386136; DOI=10.1161/01.cir.96.9.2778;
RA Donger C., Denjoy I., Berthet M., Neyroud N., Cruaud C., Bennaceur M.,
RA Chivoret G., Schwartz K., Coumel P., Guicheney P.;
RT "KVLQT1 C-terminal missense mutation causes a forme fruste long-QT
RT syndrome.";
RL Circulation 96:2778-2781(1997).
RN [35]
RP VARIANT LQT1 ARG-216.
RX PubMed=9272155; DOI=10.1007/s004390050516;
RA van den Berg M.H., Wilde A.A.M., Robles de Medina E.O., Meyer H.,
RA Geelen J.L.M.C., Jongbloed R.J.E., Wellens H.J., Geraedts J.P.M.;
RT "The long QT syndrome: a novel missense mutation in the S6 region of the
RT KVLQT1 gene.";
RL Hum. Genet. 100:356-361(1997).
RN [36]
RP VARIANT LQT1 ASN-317.
RX PubMed=9302275; DOI=10.1093/hmg/6.11.1943;
RA Wollnik B., Schroeder B.C., Kubisch C., Esperer H.D., Wieacker P.,
RA Jentsch T.J.;
RT "Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel
RT mutations found in inherited cardiac arrhythmias.";
RL Hum. Mol. Genet. 6:1943-1949(1997).
RN [37]
RP VARIANT LQT1 VAL-341.
RX PubMed=9570196; DOI=10.1161/01.cir.97.13.1264;
RA Li H., Chen Q., Moss A.J., Robinson J.L., Goytia V., Perry J.C.,
RA Vincent G.M., Priori S.G., Lehmann M.H., Denfield S.W., Duff D., Kaine S.,
RA Shimizu W., Schwartz P.J., Wang Q., Towbin J.A.;
RT "New mutations in the KVLQT1 potassium channel that cause long-QT
RT syndrome.";
RL Circulation 97:1264-1269(1998).
RN [38]
RP VARIANT LQT1 THR-300.
RX PubMed=9641694; DOI=10.1161/01.cir.97.24.2420;
RA Priori S.G., Schwartz P.J., Napolitano C., Bianchi L., Dennis A.T.,
RA de Fusco M., Brown A.M., Casari G.;
RT "A recessive variant of the Romano-Ward Long-QT syndrome?";
RL Circulation 97:2420-2425(1998).
RN [39]
RP VARIANT JLNS1 SER-305.
RX PubMed=9781056; DOI=10.1038/sj.ejhg.5200165;
RA Neyroud N., Denjoy I., Donger C., Gary F., Villain E., Leenhardt A.,
RA Benali K., Schwartz K., Coumel P., Guicheney P.;
RT "Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes
RT an apparently normal phenotype in long QT syndrome.";
RL Eur. J. Hum. Genet. 6:129-133(1998).
RN [40]
RP VARIANTS LQT1 ARG-168; SER-314; CYS-315; ASN-318; PRO-353 AND TRP-366.
RX PubMed=9693036; DOI=10.1006/geno.1998.5361;
RA Splawski I., Shen J., Timothy K.W., Vincent G.M., Lehmann M.H.,
RA Keating M.T.;
RT "Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and
RT KCNE1.";
RL Genomics 51:86-97(1998).
RN [41]
RP VARIANTS LQT1 ILE-311 AND ASN-317.
RX PubMed=9482580;
RX DOI=10.1002/(sici)1098-1004(1998)11:2<158::aid-humu9>3.0.co;2-f;
RA Saarinen K., Swan H., Kainulainen K., Toivonen L., Viitasalo M.,
RA Kontula K.;
RT "Molecular genetics of the long QT syndrome: two novel mutations of the
RT KVLQT1 gene and phenotypic expression of the mutant gene in a large
RT kindred.";
RL Hum. Mutat. 11:158-165(1998).
RN [42]
RP VARIANT LQT1 PHE-339 DEL.
RX PubMed=9702906; DOI=10.1203/00006450-199808000-00002;
RA Ackerman M.J., Schroeder J.J., Berry R., Schaid D.J., Porter C.-B.J.,
RA Michels V.V., Thibodeau S.N.;
RT "A novel mutation in KVLQT1 is the molecular basis of inherited long QT
RT syndrome in a near-drowning patient's family.";
RL Pediatr. Res. 44:148-153(1998).
RN [43]
RP VARIANT JLNS1 HIS-243.
RX PubMed=10090886; DOI=10.1086/302346;
RA Mohammad-Panah R., Demolombe S., Neyroud N., Guicheney P., Kyndt F.,
RA van den Hoff M., Baro I., Escande D.;
RT "Mutations in a dominant-negative isoform correlate with phenotype in
RT inherited cardiac arrhythmias.";
RL Am. J. Hum. Genet. 64:1015-1023(1999).
RN [44]
RP VARIANT LQT1 HIS-174.
RX PubMed=10367071;
RA Denjoy I., Lupoglazoff J.M., Donger C., Berthet M., Richard P., Neyroud N.,
RA Villain E., Lucet V., Coumel P., Guicheney P.;
RT "Congenital long QT syndrome. The value of genetics in prognostic
RT evaluation.";
RL Arch. Mal. Coeur Vaiss. 92:557-563(1999).
RN [45]
RP VARIANTS LQT1 LEU-225; CYS-281 AND CYS-315.
RX PubMed=9927399; DOI=10.1161/01.cir.99.4.529;
RA Priori S.G., Napolitano C., Schwartz P.J.;
RT "Low penetrance in the long-QT syndrome: clinical impact.";
RL Circulation 99:529-533(1999).
RN [46]
RP VARIANT LQT1 THR-525.
RX PubMed=10482963; DOI=10.1038/sj.ejhg.5200323;
RA Larsen L.A., Fosdal I., Andersen P.S., Kanters J.K., Vuust J., Wettrell G.,
RA Christiansen M.;
RT "Recessive Romano-Ward syndrome associated with compound heterozygosity for
RT two mutations in the KVLQT1 gene.";
RL Eur. J. Hum. Genet. 7:724-728(1999).
RN [47]
RP VARIANTS LQT1 SER-184; ARG-189; SER-314; SER-315; ARG-345; PRO-373 AND
RP ARG-392.
RX PubMed=10220144;
RX DOI=10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v;
RA Jongbloed R.J.E., Wilde A.A.M., Geelen J.L.M.C., Doevendans P., Schaap C.,
RA van Langen I., van Tintelen J.P., Cobben J.M., Beaufort-Krol G.C.M.,
RA Geraedts J.P.M., Smeets H.J.M.;
RT "Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.";
RL Hum. Mutat. 13:301-310(1999).
RN [48]
RP VARIANT LQT1 CYS-157.
RX PubMed=10220146;
RX DOI=10.1002/(sici)1098-1004(1999)13:4<318::aid-humu9>3.0.co;2-f;
RA Larsen L.A., Christiansen M., Vuust J., Andersen P.S.;
RT "High-throughput single-strand conformation polymorphism analysis by
RT automated capillary electrophoresis: robust multiplex analysis and pattern-
RT based identification of allelic variants.";
RL Hum. Mutat. 13:318-327(1999).
RN [49]
RP CHARACTERIZATION OF VARIANTS LQT1 CYS-243; ARG-248 AND LYS-261.
RX PubMed=10409658; DOI=10.1074/jbc.274.30.21063;
RA Franqueza L., Lin M., Shen J., Keating M.T., Sanguinetti M.C.;
RT "Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1
RT potassium channels modify gating and interaction with minK subunits.";
RL J. Biol. Chem. 274:21063-21070(1999).
RN [50]
RP ERRATUM OF PUBMED:10409658.
RA Franqueza L., Lin M., Shen J., Keating M.T., Sanguinetti M.C.;
RL J. Biol. Chem. 274:25188-25188(1999).
RN [51]
RP VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539, VARIANT JLNS1 HIS-243,
RP CHARACTERIZATION OF VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539, AND
RP CHARACTERIZATION OF VARIANT JLNS1 HIS-243.
RX PubMed=10728423; DOI=10.1016/s0008-6363(99)00411-3;
RA Chouabe C., Neyroud N., Richard P., Denjoy I., Hainque B., Romey G.,
RA Drici M.-D., Guicheney P., Barhanin J.;
RT "Novel mutations in KvLQT1 that affect Iks activation through interactions
RT with Isk.";
RL Cardiovasc. Res. 45:971-980(2000).
RN [52]
RP VARIANTS LQT1.
RX PubMed=10973849; DOI=10.1161/01.cir.102.10.1178;
RA Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G.,
RA Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M.,
RA Keating M.T.;
RT "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A,
RT KCNE1, and KCNE2.";
RL Circulation 102:1178-1185(2000).
RN [53]
RP VARIANTS LQT1 PRO-191; SER-275; LEU-277 AND VAL-306.
RX PubMed=12442276; DOI=10.1002/humu.9085;
RA Liu W., Yang J., Hu D., Kang C., Li C., Zhang S., Li P., Chen Z., Qin X.,
RA Ying K., Li Y., Li Y., Li Z., Cheng X., Li L., Qi Y., Chen S., Wang Q.;
RT "KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese
RT population.";
RL Hum. Mutat. 20:475-476(2002).
RN [54]
RP VARIANT ATFB3 GLY-140.
RX PubMed=12522251; DOI=10.1126/science.1077771;
RA Chen Y.-H., Xu S.-J., Bendahhou S., Wang X.-L., Wang Y., Xu W.-Y.,
RA Jin H.-W., Sun H., Su X.-Y., Zhuang Q.-N., Yang Y.-Q., Li Y.-B., Liu Y.,
RA Xu H.-J., Li X.-F., Ma N., Mou C.-P., Chen Z., Barhanin J., Huang W.;
RT "KCNQ1 gain-of-function mutation in familial atrial fibrillation.";
RL Science 299:251-254(2003).
RN [55]
RP VARIANT SQT2 LEU-307, AND CHARACTERIZATION OF VARIANT SQT2 LEU-307.
RX PubMed=15159330; DOI=10.1161/01.cir.0000130409.72142.fe;
RA Bellocq C., van Ginneken A.C.G., Bezzina C.R., Alders M., Escande D.,
RA Mannens M.M.A.M., Baro I., Wilde A.A.M.;
RT "Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.";
RL Circulation 109:2394-2397(2004).
RN [56]
RP VARIANTS LQT1 71-ALA--PRO-73 DEL; THR-73; GLY-115; TYR-122; ILE-133;
RP PHE-136; LYS-160; ARG-168; CYS-174; GLN-190; PHE-204; LEU-225; ASN-235;
RP ASN-242; CYS-243; MET-254; 254-VAL--PHE-256 DEL; CYS-259; LEU-259; ASP-261;
RP PRO-266; SER-269; ASP-269; PHE-273; ARG-273; SER-276 DEL; LEU-277; HIS-278;
RP LYS-290; ASP-292; CYS-293; VAL-302; ARG-304; SER-305; ILE-312; SER-314;
RP ARG-314; ASP-314; CYS-315; ARG-316; ALA-322; PHE-339 DEL; VAL-341; SER-343;
RP GLU-344; VAL-344; GLU-345; TRP-349; PRO-353; ARG-362; TRP-366; HIS-374;
RP SER-380; TYR-389; TRP-452; GLY-524; GLU-526; TRP-539; LEU-546; CYS-555;
RP HIS-555; TYR-566; SER-567; ARG-568; MET-587; THR-590; HIS-591; GLN-594;
RP MET-619 AND SER-626.
RX PubMed=15840476; DOI=10.1016/j.hrthm.2005.01.020;
RA Tester D.J., Will M.L., Haglund C.M., Ackerman M.J.;
RT "Compendium of cardiac channel mutations in 541 consecutive unrelated
RT patients referred for long QT syndrome genetic testing.";
RL Heart Rhythm 2:507-517(2005).
RN [57]
RP VARIANTS LQT1 THR-46; PHE-137; LYS-146; ASP-173; PRO-174; TRP-190; PRO-192;
RP HIS-202; MET-204; PHE-209; MET-215; HIS-231; PRO-239; LEU-254; ARG-258;
RP ASN-258; VAL-262; ASP-272; TRP-277; GLU-280; GLU-287; THR-302; ASP-308;
RP GLU-316; MET-322; ARG-343; LEU-343; PRO-349; ARG-350; SER-351; THR-360;
RP ASP-372; MET-393; GLY-518; PRO-518; ASP-548; ALA-554; THR-567; LEU-573;
RP HIS-583 AND ASP-586.
RX PubMed=16414944; DOI=10.1001/jama.294.23.2975;
RA Napolitano C., Priori S.G., Schwartz P.J., Bloise R., Ronchetti E.,
RA Nastoli J., Bottelli G., Cerrone M., Leonardi S.;
RT "Genetic testing in the long QT syndrome: development and validation of an
RT efficient approach to genotyping in clinical practice.";
RL JAMA 294:2975-2980(2005).
RN [58]
RP VARIANTS LQT1 CYS-231; PRO-243; CYS-259; HIS-259; PHE-273; SER-314;
RP GLU-316; VAL-341; VAL-344 AND SER-626.
RX PubMed=16922724; DOI=10.1111/j.1399-0004.2006.00671.x;
RA Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P.,
RA Kugener B., Fayol L., Gonzalez Armengod C., Oddou B., Chanavat V.,
RA Froidefond E., Perraudin R., Rousson R., Rodriguez-Lafrasse C.;
RT "Spectrum of pathogenic mutations and associated polymorphisms in a cohort
RT of 44 unrelated patients with long QT syndrome.";
RL Clin. Genet. 70:214-227(2006).
RN [59]
RP VARIANT JLNS1 MET-322, AND VARIANT LQT1 MET-322.
RX PubMed=18400097; DOI=10.1186/1471-2350-9-24;
RA Zhang S., Yin K., Ren X., Wang P., Zhang S., Cheng L., Yang J., Liu J.Y.,
RA Liu M., Wang Q.K.;
RT "Identification of a novel KCNQ1 mutation associated with both Jervell and
RT Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese
RT family.";
RL BMC Med. Genet. 9:24-24(2008).
RN [60]
RP VARIANT JLNS1 PHE-248, AND CHARACTERIZATION OF VARIANT JLNS1 PHE-248.
RX PubMed=18441444; DOI=10.1253/circj.72.687;
RA Ohno S., Kubota T., Yoshida H., Tsuji K., Makiyama T., Yamada S., Kuga K.,
RA Yamaguchi I., Kita T., Horie M.;
RT "A novel mutation associated with Jervell and Lange-Nielsen syndrome in a
RT Japanese family.";
RL Circ. J. 72:687-693(2008).
RN [61]
RP INVOLVEMENT IN NIDDM.
RX PubMed=18711367; DOI=10.1038/ng.207;
RA Yasuda K., Miyake K., Horikawa Y., Hara K., Osawa H., Furuta H., Hirota Y.,
RA Mori H., Jonsson A., Sato Y., Yamagata K., Hinokio Y., Wang H.Y.,
RA Tanahashi T., Nakamura N., Oka Y., Iwasaki N., Iwamoto Y., Yamada Y.,
RA Seino Y., Maegawa H., Kashiwagi A., Takeda J., Maeda E., Shin H.D.,
RA Cho Y.M., Park K.S., Lee H.K., Ng M.C., Ma R.C., So W.Y., Chan J.C.,
RA Lyssenko V., Tuomi T., Nilsson P., Groop L., Kamatani N., Sekine A.,
RA Nakamura Y., Yamamoto K., Yoshida T., Tokunaga K., Itakura M., Makino H.,
RA Nanjo K., Kadowaki T., Kasuga M.;
RT "Variants in KCNQ1 are associated with susceptibility to type 2 diabetes
RT mellitus.";
RL Nat. Genet. 40:1092-1097(2008).
RN [62]
RP INVOLVEMENT IN NIDDM.
RX PubMed=18711366; DOI=10.1038/ng.208;
RA Unoki H., Takahashi A., Kawaguchi T., Hara K., Horikoshi M., Andersen G.,
RA Ng D.P., Holmkvist J., Borch-Johnsen K., Jorgensen T., Sandbaek A.,
RA Lauritzen T., Hansen T., Nurbaya S., Tsunoda T., Kubo M., Babazono T.,
RA Hirose H., Hayashi M., Iwamoto Y., Kashiwagi A., Kaku K., Kawamori R.,
RA Tai E.S., Pedersen O., Kamatani N., Kadowaki T., Kikkawa R., Nakamura Y.,
RA Maeda S.;
RT "SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in
RT East Asian and European populations.";
RL Nat. Genet. 40:1098-1102(2008).
RN [63]
RP INVOLVEMENT IN NIDDM.
RX PubMed=24390345; DOI=10.1038/nature12828;
RG The SIGMA Type 2 Diabetes Consortium;
RT "Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes
RT in Mexico.";
RL Nature 506:97-101(2014).
RN [64]
RP VARIANTS LQT1 THR-46; ILE-265; SER-296; VAL-302; GLU-316; SER-339; GLY-360;
RP TYR-455 AND LEU-546, AND CHARACTERIZATION OF VARIANTS LQT1 THR-46; ILE-265;
RP SER-296; VAL-302; GLU-316; SER-339; GLY-360; TYR-455 AND LEU-546.
RX PubMed=19808498; DOI=10.1161/circep.109.850149;
RA Yang T., Chung S.K., Zhang W., Mullins J.G., McCulley C.H., Crawford J.,
RA MacCormick J., Eddy C.A., Shelling A.N., French J.K., Yang P.,
RA Skinner J.R., Roden D.M., Rees M.I.;
RT "Biophysical properties of 9 KCNQ1 mutations associated with long-QT
RT syndrome.";
RL Circ. Arrhythm. Electrophysiol. 2:417-426(2009).
RN [65]
RP VARIANTS LQT1 VAL-2; SER-7; THR-46; 64-PRO--PRO-70 DEL; PHE-66; THR-73;
RP CYS-111; LEU-117; LEU-127; ILE-133; PRO-134; ALA-144; MET-153; MET-162;
RP ARG-168; MET-172; CYS-174; HIS-174; THR-178; SER-179; HIS-184; ARG-186;
RP GLN-190; LEU-190; TRP-195; VAL-198; ALA-199; MET-204; MET-215; MET-224;
RP LEU-225; CYS-231; HIS-231; ASN-235; GLY-241; ASN-242; CYS-243; PRO-250;
RP MET-254; CYS-259; LEU-259; VAL-262; PRO-266; SER-268; ASP-269; SER-269;
RP ASP-272; PHE-273; VAL-274; LEU-277; PRO-277; GLU-280; CYS-281; PRO-282;
RP GLY-283; ASP-292; CYS-293; GLU-302; VAL-302; PRO-303; ARG-305; SER-305;
RP ARG-306; ILE-312; CYS-314; SER-314; CYS-315; VAL-316; SER-320; ALA-322;
RP MET-322; ARG-325; TYR-339; GLU-341; GLY-341; VAL-341; PHE-342; LEU-343;
RP ARG-350; SER-351; ARG-354; MET-360; ARG-362; HIS-365; GLN-366; TRP-366;
RP HIS-374; GLY-379; LYS-385; PRO-389; THR-391 INS; TRP-397; ARG-398; GLU-446;
RP LEU-448; TRP-451; SER-460; LEU-477; TRP-511; GLN-518; ARG-520; SER-522;
RP GLY-524; THR-525; VAL-525; TRP-533; GLN-539; TRP-539; ILE-541; LYS-543;
RP LEU-546; ARG-547; CYS-555; HIS-555; SER-555; GLU-557; PHE-566; PRO-566;
RP TYR-566; THR-567; ARG-568; GLU-569; LEU-571; MET-587; ASP-589; CYS-591;
RP HIS-591; GLN-594; PRO-594; GLU-596 DEL; LYS-596; MET-600; ASN-611; HIS-614
RP DEL; SER-626 AND ARG-635.
RX PubMed=19716085; DOI=10.1016/j.hrthm.2009.05.021;
RA Kapplinger J.D., Tester D.J., Salisbury B.A., Carr J.L., Harris-Kerr C.,
RA Pollevick G.D., Wilde A.A., Ackerman M.J.;
RT "Spectrum and prevalence of mutations from the first 2,500 consecutive
RT unrelated patients referred for the FAMILION long QT syndrome genetic
RT test.";
RL Heart Rhythm 6:1297-1303(2009).
RN [66]
RP VARIANT LQT1 HIS-320, AND CHARACTERIZATION OF VARIANTS LQT1 ALA-320 AND
RP HIS-320.
RX PubMed=19540844; DOI=10.1016/j.yjmcc.2009.06.009;
RA Thomas D., Khalil M., Alter M., Schweizer P.A., Karle C.A., Wimmer A.B.,
RA Licka M., Katus H.A., Koenen M., Ulmer H.E., Zehelein J.;
RT "Biophysical characterization of KCNQ1 P320 mutations linked to long QT
RT syndrome 1.";
RL J. Mol. Cell. Cardiol. 48:230-237(2010).
RN [67]
RP VARIANT LQT1 LEU-277, AND CHARACTERIZATION OF VARIANT LQT1 LEU-277.
RX PubMed=21241800; DOI=10.1016/j.bbadis.2011.01.008;
RA Aidery P., Kisselbach J., Schweizer P.A., Becker R., Katus H.A., Thomas D.;
RT "Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary
RT long QT syndrome with phenotypic variability.";
RL Biochim. Biophys. Acta 1812:488-494(2011).
RN [68]
RP VARIANT LQT1 GLU-557, AND CHARACTERIZATION OF VARIANT LQT1 GLU-557.
RX PubMed=25139741; DOI=10.1093/cvr/cvu191;
RA Spaetjens R.L., Bebarova M., Seyen S.R., Lentink V., Jongbloed R.J.,
RA Arens Y.H., Heijman J., Volders P.G.;
RT "Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but
RT preserved cAMP-dependent up-regulation.";
RL Cardiovasc. Res. 104:216-225(2014).
RN [69]
RP VARIANTS LQT1 ASN-235; CYS-315 AND ALA-322, AND CHARACTERIZATION OF VARIANT
RP LQT1 ASN-235.
RX PubMed=24269949; DOI=10.1016/j.hrthm.2013.11.021;
RA Bartos D.C., Giudicessi J.R., Tester D.J., Ackerman M.J., Ohno S.,
RA Horie M., Gollob M.H., Burgess D.E., Delisle B.P.;
RT "A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by
RT limiting the Kv7.1 channel conformational changes associated with protein
RT kinase A phosphorylation.";
RL Heart Rhythm 11:459-468(2014).
RN [70]
RP VARIANT LQT1 SER-269, AND CHARACTERIZATION OF VARIANT LQT1 SER-269.
RX PubMed=24184248; DOI=10.1016/j.jacc.2013.08.1648;
RA Wu J., Naiki N., Ding W.G., Ohno S., Kato K., Zang W.J., Delisle B.P.,
RA Matsuura H., Horie M.;
RT "A molecular mechanism for adrenergic-induced long QT syndrome.";
RL J. Am. Coll. Cardiol. 63:819-827(2014).
RN [71]
RP CHARACTERIZATION OF VARIANTS LQT1 LEU-546; CYS-555; HIS-555; GLU-557 AND
RP ASP-589, INTERACTION WITH KCNE1 AND AKAP9, SUBCELLULAR LOCATION, AND
RP FUNCTION.
RX PubMed=25037568; DOI=10.1242/jcs.147033;
RA Dvir M., Strulovich R., Sachyani D., Ben-Tal Cohen I., Haitin Y.,
RA Dessauer C., Pongs O., Kass R., Hirsch J.A., Attali B.;
RT "Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt
RT I(KS) regulation by PKA and PIP(2).";
RL J. Cell Sci. 127:3943-3955(2014).
RN [72]
RP VARIANT LQT1 THR-590, AND CHARACTERIZATION OF VARIANT LQT1 THR-590.
RX PubMed=24713462; DOI=10.1016/j.yjmcc.2014.03.019;
RA Kinoshita K., Komatsu T., Nishide K., Hata Y., Hisajima N., Takahashi H.,
RA Kimoto K., Aonuma K., Tsushima E., Tabata T., Yoshida T., Mori H.,
RA Nishida K., Yamaguchi Y., Ichida F., Fukurotani K., Inoue H., Nishida N.;
RT "A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel
RT trafficking and function but not Yotiao interaction.";
RL J. Mol. Cell. Cardiol. 72:273-280(2014).
RN [73]
RP CHARACTERIZATION OF VARIANTS LQT1 ASN-242; PRO-243; HIS-250; VAL-306;
RP ASN-317; ASP-586 AND MET-619, AND CHARACTERIZATION OF VARIANTS JLNS1
RP PHE-248; ILE-311; MET-322 AND ASP-589.
RX PubMed=25705178; DOI=10.3389/fncel.2015.00032;
RA Mousavi Nik A., Gharaie S., Jeong Kim H.;
RT "Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell
RT and Lange-Nielsen syndrome vs. Romano-Ward syndrome.";
RL Front. Cell. Neurosci. 9:32-32(2015).
RN [74]
RP VARIANT LQT1 ASP-173, AND CHARACTERIZATION OF VARIANT LQT1 ASP-173.
RX PubMed=34398675; DOI=10.1161/jaha.121.021236;
RA Kasak L., Rull K., Yang T., Roden D.M., Laan M.;
RT "Recurrent pregnancy loss and concealed Long-QT syndrome.";
RL J. Am. Heart Assoc. 10:e021236-e021236(2021).
CC -!- FUNCTION: Potassium channel that plays an important role in a number of
CC tissues, including heart, inner ear, stomach and colon
CC (PubMed:10646604, PubMed:25441029). Associates with KCNE beta subunits
CC that modulates current kinetics (PubMed:9312006, PubMed:9108097,
CC PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231).
CC Induces a voltage-dependent current by rapidly activating and slowly
CC deactivating potassium-selective outward current (PubMed:9312006,
CC PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505,
CC PubMed:25441029). Promotes also a delayed voltage activated potassium
CC current showing outward rectification characteristic (By similarity).
CC During beta-adrenergic receptor stimulation participates in cardiac
CC repolarization by associating with KCNE1 to form the I(Ks) cardiac
CC potassium current that increases the amplitude and slows down the
CC activation kinetics of outward potassium current I(Ks) (By similarity)
CC (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604,
CC PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses
CC KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3,
CC forms the potassium channel that is important for cyclic AMP-stimulated
CC intestinal secretion of chloride ions (PubMed:10646604). This
CC interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the
CC reduction of currents (By similarity). During conditions of increased
CC substrate load, maintains the driving force for proximal tubular and
CC intestinal sodium ions absorption, gastric acid secretion, and cAMP-
CC induced jejunal chloride ions secretion (By similarity). Allows the
CC provision of potassium ions to the luminal membrane of the secretory
CC canaliculus in the resting state as well as during stimulated acid
CC secretion (By similarity). When associated with KCNE2, forms a
CC heterooligomer complex leading to currents with an apparently
CC instantaneous activation, a rapid deactivation process and a linear
CC current-voltage relationship and decreases the amplitude of the outward
CC current (PubMed:11101505). When associated with KCNE4, inhibits
CC voltage-gated potassium channel activity (PubMed:19687231). When
CC associated with KCNE5, this complex only conducts current upon strong
CC and continued depolarization (PubMed:12324418). Also forms a
CC heterotetramer with KCNQ5; has a voltage-gated potassium channel
CC activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-
CC bisphosphate (PubMed:25037568). {ECO:0000250|UniProtKB:P97414,
CC ECO:0000250|UniProtKB:Q9Z0N7, ECO:0000269|PubMed:10646604,
CC ECO:0000269|PubMed:10713961, ECO:0000269|PubMed:11101505,
CC ECO:0000269|PubMed:12324418, ECO:0000269|PubMed:19687231,
CC ECO:0000269|PubMed:24855057, ECO:0000269|PubMed:25037568,
CC ECO:0000269|PubMed:8900283, ECO:0000269|PubMed:9108097,
CC ECO:0000269|PubMed:9312006}.
CC -!- FUNCTION: [Isoform 2]: Non-functional alone but modulatory when
CC coexpressed with the full-length isoform 1.
CC {ECO:0000269|PubMed:9305853}.
CC -!- SUBUNIT: Tetramer (PubMed:18165683, PubMed:19693805, PubMed:25441029).
CC Heterotetramer with KCNE1; targets to the membrane raft
CC (PubMed:25037568, PubMed:19693805, PubMed:20533308). Interacts (via C-
CC terminus) with CALM; forms a heterooctameric structure (with 4:4
CC KCNQ1:CALM stoichiometry) in a calcium-independent manner
CC (PubMed:18165683, PubMed:25441029). Interacts with AKAP9; targets
CC protein kinase A (PKA) catalytic and regulatory subunits and protein
CC phosphatase 1 (PP1) to the KCNQ1-KCNE1 complex, allowing PKA-mediated
CC phosphorylation and increase of delayed rectifier potassium channel
CC activity (PubMed:11799244, PubMed:25037568). Interacts with KCNE2;
CC forms a heterooligomer complex that targets to the membrane raft and
CC leading to currents with an apparently instantaneous activation, a
CC rapid deactivation process and a linear current-voltage relationship
CC and decreases the amplitude of the outward current (PubMed:11101505,
CC PubMed:20533308). Interacts with AP2M1; mediates estrogen-induced
CC internalization via clathrin-coated vesicles (PubMed:23529131).
CC Interacts with NEDD4L; promotes internalization and decreases I(Ks)
CC currents (PubMed:23529131, PubMed:22024150). Interacts with USP2;
CC counteracts the NEDD4L-specific down-regulation of I(Ks) and restore
CC plasma membrane localization (PubMed:22024150). Heterotetramer with
CC KCNQ5; has a voltage-gated potassium channel activity
CC (PubMed:24855057). Interacts with KCNE3; alters membrane raft
CC localization (PubMed:20533308). Interacts with KCNE4; impairs KCNQ1
CC localization in lipid rafts and inhibits voltage-gated potassium
CC channel activity (PubMed:19687231, PubMed:20533308). Interacts with
CC KCNE5; impairs KCNQ1 localization in lipid rafts and only conducts
CC current upon strong and continued depolarization (PubMed:20533308,
CC PubMed:12324418). {ECO:0000269|PubMed:11101505,
CC ECO:0000269|PubMed:11799244, ECO:0000269|PubMed:12324418,
CC ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:19687231,
CC ECO:0000269|PubMed:19693805, ECO:0000269|PubMed:20533308,
CC ECO:0000269|PubMed:22024150, ECO:0000269|PubMed:23529131,
CC ECO:0000269|PubMed:24855057, ECO:0000269|PubMed:25037568,
CC ECO:0000269|PubMed:25441029}.
CC -!- INTERACTION:
CC P51787; P15382: KCNE1; NbExp=4; IntAct=EBI-359667, EBI-7043557;
CC P51787-1; P62158: CALM3; NbExp=6; IntAct=EBI-15885881, EBI-397435;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10646604,
CC ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:21228319,
CC ECO:0000269|PubMed:22024150, ECO:0000269|PubMed:25037568}; Multi-pass
CC membrane protein {ECO:0000269|PubMed:18165683}. Cytoplasmic vesicle
CC membrane {ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:23529131}.
CC Early endosome {ECO:0000269|PubMed:23529131}. Membrane raft
CC {ECO:0000269|PubMed:20533308, ECO:0000269|PubMed:24855057}. Endoplasmic
CC reticulum {ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:24855057}.
CC Basolateral cell membrane {ECO:0000269|PubMed:21228319}.
CC Note=Colocalized with KCNE3 at the plasma membrane (PubMed:10646604).
CC Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early
CC endosome (PubMed:23529131). Heterotetramer with KCNQ5 is highly
CC retained at the endoplasmic reticulum and is localized outside of lipid
CC raft microdomains (PubMed:24855057). During the early stages of
CC epithelial cell polarization induced by the calcium switch it removed
CC from plasma membrane to the endoplasmic reticulum where it retained and
CC it is redistributed to the basolateral cell surface in a PI3K-dependent
CC manner at a later stage (PubMed:21228319).
CC {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:21228319,
CC ECO:0000269|PubMed:23529131, ECO:0000269|PubMed:24855057}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=P51787-1; Sequence=Displayed;
CC Name=2; Synonyms=TKvLQT1;
CC IsoId=P51787-2; Sequence=VSP_000981, VSP_000982;
CC -!- TISSUE SPECIFICITY: Abundantly expressed in heart, pancreas, prostate,
CC kidney, small intestine and peripheral blood leukocytes. Less abundant
CC in placenta, lung, spleen, colon, thymus, testis and ovaries.
CC -!- DOMAIN: The segment S4 is probably the voltage-sensor and is
CC characterized by a series of positively charged amino acids at every
CC third position.
CC -!- DOMAIN: The coiled-coil domain mediates tetramerization.
CC {ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:19693805}.
CC -!- DOMAIN: The segment S6 is involved in the inhibition of voltage-gated
CC potassium channel activity by KCNE4. {ECO:0000269|PubMed:19687231}.
CC -!- DOMAIN: The C-terminal assembly domain promotes self-interactiona;
CC allows functional channel. {ECO:0000269|PubMed:10654932}.
CC -!- DOMAIN: The C-terminal coiled-coil domain interacts with a single CALM
CC molecule via the first two membrane-proximal helical regions, with CALM
CC forming a clamp-like structure. Binding of CALM C-terminus to the first
CC helical region is calcium-independent but is essential for assembly of
CC the structure. Binding of CALM N-terminus to the second helical region
CC is calcium-dependent and regulates electrophysiological activity of the
CC channel. {ECO:0000269|PubMed:25441029}.
CC -!- PTM: Phosphorylation at Ser-27 by PKA; increases delayed rectifier
CC potassium channel activity of the KCNQ1-KCNE1 complex through a
CC macromolecular complex that includes PKA, PP1, and the targeting
CC protein AKAP9. {ECO:0000269|PubMed:11799244,
CC ECO:0000269|PubMed:25037568}.
CC -!- PTM: Ubiquitinated by NEDD4L; promotes internalization
CC (PubMed:22024150). The ubiquitinylated form is internalized through a
CC clathrin-mediated endocytosis by interacting with AP2M1 and is recycled
CC back to the cell membrane via RAB4A and RAB11A (PubMed:23529131).
CC {ECO:0000269|PubMed:22024150, ECO:0000269|PubMed:23529131}.
CC -!- PTM: Deubiquitinated by USP2; counteracts the NEDD4L-specific down-
CC regulation of I(Ks) and restores the membrane localization.
CC {ECO:0000269|PubMed:22024150}.
CC -!- DISEASE: Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder
CC characterized by a prolonged QT interval on the ECG and polymorphic
CC ventricular arrhythmias. They cause syncope and sudden death in
CC response to exercise or emotional stress, and can present with a
CC sentinel event of sudden cardiac death in infancy.
CC {ECO:0000269|PubMed:10024302, ECO:0000269|PubMed:10220144,
CC ECO:0000269|PubMed:10220146, ECO:0000269|PubMed:10367071,
CC ECO:0000269|PubMed:10409658, ECO:0000269|PubMed:10482963,
CC ECO:0000269|PubMed:10728423, ECO:0000269|PubMed:10973849,
CC ECO:0000269|PubMed:11799244, ECO:0000269|PubMed:12442276,
CC ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16414944,
CC ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:18165683,
CC ECO:0000269|PubMed:18400097, ECO:0000269|PubMed:19540844,
CC ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:19808498,
CC ECO:0000269|PubMed:21241800, ECO:0000269|PubMed:24184248,
CC ECO:0000269|PubMed:24269949, ECO:0000269|PubMed:24713462,
CC ECO:0000269|PubMed:25037568, ECO:0000269|PubMed:25139741,
CC ECO:0000269|PubMed:25705178, ECO:0000269|PubMed:34398675,
CC ECO:0000269|PubMed:8528244, ECO:0000269|PubMed:8818942,
CC ECO:0000269|PubMed:8872472, ECO:0000269|PubMed:9024139,
CC ECO:0000269|PubMed:9272155, ECO:0000269|PubMed:9302275,
CC ECO:0000269|PubMed:9312006, ECO:0000269|PubMed:9323054,
CC ECO:0000269|PubMed:9386136, ECO:0000269|PubMed:9482580,
CC ECO:0000269|PubMed:9570196, ECO:0000269|PubMed:9641694,
CC ECO:0000269|PubMed:9693036, ECO:0000269|PubMed:9702906,
CC ECO:0000269|PubMed:9799083, ECO:0000269|PubMed:9927399,
CC ECO:0000269|Ref.32}. Note=The disease is caused by variants affecting
CC the gene represented in this entry.
CC -!- DISEASE: Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: An
CC autosomal recessive disorder characterized by congenital deafness,
CC prolongation of the QT interval, syncopal attacks due to ventricular
CC arrhythmias, and a high risk of sudden death.
CC {ECO:0000269|PubMed:10090886, ECO:0000269|PubMed:10728423,
CC ECO:0000269|PubMed:18400097, ECO:0000269|PubMed:18441444,
CC ECO:0000269|PubMed:25705178, ECO:0000269|PubMed:9781056}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An
CC autosomal dominant form of atrial fibrillation, a common sustained
CC cardiac rhythm disturbance. Atrial fibrillation is characterized by
CC disorganized atrial electrical activity and ineffective atrial
CC contraction promoting blood stasis in the atria and reduces ventricular
CC filling. It can result in palpitations, syncope, thromboembolic stroke,
CC and congestive heart failure. {ECO:0000269|PubMed:12522251}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Short QT syndrome 2 (SQT2) [MIM:609621]: A heart disorder
CC characterized by idiopathic persistently and uniformly short QT
CC interval on ECG in the absence of structural heart disease in affected
CC individuals. It causes syncope and sudden death.
CC {ECO:0000269|PubMed:15159330}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]:
CC A multifactorial disorder of glucose homeostasis caused by a lack of
CC sensitivity to the body's own insulin. Affected individuals usually
CC have an obese body habitus and manifestations of a metabolic syndrome
CC characterized by diabetes, insulin resistance, hypertension and
CC hypertriglyceridemia. The disease results in long-term complications
CC that affect the eyes, kidneys, nerves, and blood vessels.
CC {ECO:0000269|PubMed:18711366, ECO:0000269|PubMed:18711367,
CC ECO:0000269|PubMed:24390345}. Note=Disease susceptibility is associated
CC with variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: Mutagenesis experiments were carried out by expressing
CC in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually
CC (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt
CC homomultimers) and minK (heteromultimers).
CC -!- SIMILARITY: Belongs to the potassium channel family. KQT (TC 1.A.1.15)
CC subfamily. Kv7.1/KCNQ1 sub-subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC51781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
CC Sequence=BAA34739.1; Type=Frameshift; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Wikipedia; Note=KvLQT1 entry;
CC URL="https://en.wikipedia.org/wiki/KvLQT1";
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DR EMBL; AF000571; AAC51776.1; -; mRNA.
DR EMBL; AF051426; AAC05705.1; -; mRNA.
DR EMBL; AB015163; BAA34738.1; -; Genomic_DNA.
DR EMBL; AB015163; BAA34739.1; ALT_FRAME; Genomic_DNA.
DR EMBL; AJ006345; CAB44649.1; -; Genomic_DNA.
DR EMBL; AJ006345; CAB44650.1; -; Genomic_DNA.
DR EMBL; AY114213; AAM94040.1; -; mRNA.
DR EMBL; AK290618; BAF83307.1; -; mRNA.
DR EMBL; AC013791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC021424; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC124055; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC124057; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP006463; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF455303; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF455304; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF455305; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF455306; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF459741; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471158; EAX02517.1; -; Genomic_DNA.
DR EMBL; BC113545; AAI13546.1; -; mRNA.
DR EMBL; U86146; AAB53974.1; -; mRNA.
DR EMBL; U89364; AAC51781.1; ALT_SEQ; mRNA.
DR CCDS; CCDS7736.1; -. [P51787-1]
DR RefSeq; NP_000209.2; NM_000218.2. [P51787-1]
DR RefSeq; NP_861463.1; NM_181798.1. [P51787-2]
DR PDB; 3BJ4; X-ray; 2.00 A; A/B=574-622.
DR PDB; 3HFC; X-ray; 2.45 A; A/B/C=583-611.
DR PDB; 3HFE; X-ray; 1.70 A; A/B/C=583-611.
DR PDB; 4UMO; X-ray; 3.00 A; A/B=352-539.
DR PDB; 4V0C; X-ray; 2.86 A; A/B=352-539.
DR PDB; 6MIE; NMR; -; A=100-249.
DR PDB; 6UZZ; EM; 3.10 A; A/C/E/G=76-620.
DR PDB; 6V00; EM; 3.10 A; A/D/G/J=76-620.
DR PDB; 6V01; EM; 3.90 A; A/D/G/J=75-620.
DR PDBsum; 3BJ4; -.
DR PDBsum; 3HFC; -.
DR PDBsum; 3HFE; -.
DR PDBsum; 4UMO; -.
DR PDBsum; 4V0C; -.
DR PDBsum; 6MIE; -.
DR PDBsum; 6UZZ; -.
DR PDBsum; 6V00; -.
DR PDBsum; 6V01; -.
DR AlphaFoldDB; P51787; -.
DR BMRB; P51787; -.
DR SMR; P51787; -.
DR BioGRID; 109985; 18.
DR ComplexPortal; CPX-3271; KCNQ1-KCNE1 I(Ks) channel complex.
DR ComplexPortal; CPX-902; Kv7.1 channel complex.
DR CORUM; P51787; -.
DR DIP; DIP-27591N; -.
DR DIP; DIP-29941N; -.
DR IntAct; P51787; 5.
DR MINT; P51787; -.
DR STRING; 9606.ENSP00000155840; -.
DR BindingDB; P51787; -.
DR ChEMBL; CHEMBL1866; -.
DR DrugBank; DB04957; Azimilide.
DR DrugBank; DB01244; Bepridil.
DR DrugBank; DB04855; Dronedarone.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB06089; ICA-105665.
DR DrugBank; DB11633; Isavuconazole.
DR DrugBank; DB01110; Miconazole.
DR DrugBank; DB01069; Promethazine.
DR DrugCentral; P51787; -.
DR GuidetoPHARMACOLOGY; 560; -.
DR TCDB; 1.A.1.15.6; the voltage-gated ion channel (vic) superfamily.
DR GlyGen; P51787; 1 site.
DR iPTMnet; P51787; -.
DR PhosphoSitePlus; P51787; -.
DR BioMuta; KCNQ1; -.
DR DMDM; 6166005; -.
DR EPD; P51787; -.
DR jPOST; P51787; -.
DR MassIVE; P51787; -.
DR PaxDb; P51787; -.
DR PeptideAtlas; P51787; -.
DR PRIDE; P51787; -.
DR ProteomicsDB; 56383; -. [P51787-1]
DR ProteomicsDB; 56384; -. [P51787-2]
DR Antibodypedia; 4357; 495 antibodies from 40 providers.
DR DNASU; 3784; -.
DR Ensembl; ENST00000155840.12; ENSP00000155840.2; ENSG00000053918.18. [P51787-1]
DR Ensembl; ENST00000335475.6; ENSP00000334497.5; ENSG00000053918.18. [P51787-2]
DR GeneID; 3784; -.
DR KEGG; hsa:3784; -.
DR MANE-Select; ENST00000155840.12; ENSP00000155840.2; NM_000218.3; NP_000209.2.
DR UCSC; uc001lwn.4; human. [P51787-1]
DR CTD; 3784; -.
DR DisGeNET; 3784; -.
DR GeneCards; KCNQ1; -.
DR GeneReviews; KCNQ1; -.
DR HGNC; HGNC:6294; KCNQ1.
DR HPA; ENSG00000053918; Tissue enhanced (adrenal gland, stomach).
DR MalaCards; KCNQ1; -.
DR MIM; 125853; phenotype.
DR MIM; 192500; phenotype.
DR MIM; 220400; phenotype.
DR MIM; 607542; gene.
DR MIM; 607554; phenotype.
DR MIM; 609621; phenotype.
DR neXtProt; NX_P51787; -.
DR OpenTargets; ENSG00000053918; -.
DR Orphanet; 334; Familial atrial fibrillation.
DR Orphanet; 51083; Familial short QT syndrome.
DR Orphanet; 90647; Jervell and Lange-Nielsen syndrome.
DR Orphanet; 101016; Romano-Ward syndrome.
DR PharmGKB; PA223; -.
DR VEuPathDB; HostDB:ENSG00000053918; -.
DR eggNOG; KOG1419; Eukaryota.
DR GeneTree; ENSGT00940000161001; -.
DR HOGENOM; CLU_011722_8_3_1; -.
DR InParanoid; P51787; -.
DR OMA; WKIHIAP; -.
DR PhylomeDB; P51787; -.
DR TreeFam; TF315186; -.
DR PathwayCommons; P51787; -.
DR Reactome; R-HSA-1296072; Voltage gated Potassium channels.
DR Reactome; R-HSA-5576890; Phase 3 - rapid repolarisation.
DR Reactome; R-HSA-5576893; Phase 2 - plateau phase.
DR SignaLink; P51787; -.
DR SIGNOR; P51787; -.
DR BioGRID-ORCS; 3784; 12 hits in 1070 CRISPR screens.
DR ChiTaRS; KCNQ1; human.
DR EvolutionaryTrace; P51787; -.
DR GeneWiki; KvLQT1; -.
DR GenomeRNAi; 3784; -.
DR Pharos; P51787; Tclin.
DR PRO; PR:P51787; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; P51787; protein.
DR Bgee; ENSG00000053918; Expressed in left adrenal gland cortex and 98 other tissues.
DR ExpressionAtlas; P51787; baseline and differential.
DR Genevisible; P51787; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:1990794; C:basolateral part of cell; IEA:Ensembl.
DR GO; GO:0016323; C:basolateral plasma membrane; IDA:UniProtKB.
DR GO; GO:0009986; C:cell surface; IEA:Ensembl.
DR GO; GO:0097546; C:ciliary base; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005769; C:early endosome; IDA:BHF-UCL.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0034702; C:ion channel complex; IPI:UniProtKB.
DR GO; GO:0005770; C:late endosome; IDA:BHF-UCL.
DR GO; GO:0005764; C:lysosome; IDA:BHF-UCL.
DR GO; GO:0016020; C:membrane; IC:ComplexPortal.
DR GO; GO:0045121; C:membrane raft; IDA:UniProtKB.
DR GO; GO:0043005; C:neuron projection; IEA:Ensembl.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0030133; C:transport vesicle; IEA:Ensembl.
DR GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:BHF-UCL.
DR GO; GO:0005516; F:calmodulin binding; IDA:BHF-UCL.
DR GO; GO:0005251; F:delayed rectifier potassium channel activity; IDA:UniProtKB.
DR GO; GO:0015271; F:outward rectifier potassium channel activity; IDA:UniProtKB.
DR GO; GO:0005546; F:phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB.
DR GO; GO:0034236; F:protein kinase A catalytic subunit binding; IDA:BHF-UCL.
DR GO; GO:0034237; F:protein kinase A regulatory subunit binding; IDA:BHF-UCL.
DR GO; GO:0008157; F:protein phosphatase 1 binding; IDA:BHF-UCL.
DR GO; GO:0097110; F:scaffold protein binding; IPI:BHF-UCL.
DR GO; GO:0044325; F:transmembrane transporter binding; IPI:UniProtKB.
DR GO; GO:0005249; F:voltage-gated potassium channel activity; IDA:UniProtKB.
DR GO; GO:0086089; F:voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization; IMP:BHF-UCL.
DR GO; GO:0086008; F:voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; IMP:BHF-UCL.
DR GO; GO:1902282; F:voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; IMP:BHF-UCL.
DR GO; GO:0071875; P:adrenergic receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0086014; P:atrial cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:0060117; P:auditory receptor cell development; IEA:Ensembl.
DR GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0030644; P:cellular chloride ion homeostasis; IEA:Ensembl.
DR GO; GO:0071320; P:cellular response to cAMP; IDA:BHF-UCL.
DR GO; GO:0071872; P:cellular response to epinephrine stimulus; TAS:BHF-UCL.
DR GO; GO:0071466; P:cellular response to xenobiotic stimulus; IDA:BHF-UCL.
DR GO; GO:0090102; P:cochlea development; IEA:Ensembl.
DR GO; GO:0035934; P:corticosterone secretion; IEA:Ensembl.
DR GO; GO:0050910; P:detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl.
DR GO; GO:0030218; P:erythrocyte differentiation; IEA:Ensembl.
DR GO; GO:0001698; P:gastrin-induced gastric acid secretion; IEA:Ensembl.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0006006; P:glucose metabolic process; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0048839; P:inner ear development; ISS:UniProtKB.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0050892; P:intestinal absorption; ISS:UniProtKB.
DR GO; GO:0015705; P:iodide transport; IEA:Ensembl.
DR GO; GO:0086011; P:membrane repolarization during action potential; IDA:BHF-UCL.
DR GO; GO:0098914; P:membrane repolarization during atrial cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:0086013; P:membrane repolarization during cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:0098915; P:membrane repolarization during ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:1902260; P:negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB.
DR GO; GO:0010629; P:negative regulation of gene expression; IEA:Ensembl.
DR GO; GO:1903817; P:negative regulation of voltage-gated potassium channel activity; IDA:UniProtKB.
DR GO; GO:0050905; P:neuromuscular process; IEA:Ensembl.
DR GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
DR GO; GO:0060452; P:positive regulation of cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0010460; P:positive regulation of heart rate; IMP:BHF-UCL.
DR GO; GO:1901381; P:positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:0097623; P:potassium ion export across plasma membrane; IDA:BHF-UCL.
DR GO; GO:0055075; P:potassium ion homeostasis; IEA:Ensembl.
DR GO; GO:1990573; P:potassium ion import across plasma membrane; IEA:Ensembl.
DR GO; GO:0071805; P:potassium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:0060372; P:regulation of atrial cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
DR GO; GO:0008217; P:regulation of blood pressure; IEA:Ensembl.
DR GO; GO:0060453; P:regulation of gastric acid secretion; ISS:UniProtKB.
DR GO; GO:0006349; P:regulation of gene expression by genomic imprinting; IEA:Ensembl.
DR GO; GO:0008016; P:regulation of heart contraction; IC:BHF-UCL.
DR GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
DR GO; GO:0060306; P:regulation of membrane repolarization; IDA:BHF-UCL.
DR GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
DR GO; GO:1905150; P:regulation of voltage-gated sodium channel activity; IEA:Ensembl.
DR GO; GO:0070293; P:renal absorption; ISS:UniProtKB.
DR GO; GO:0070294; P:renal sodium ion absorption; IEA:Ensembl.
DR GO; GO:0032868; P:response to insulin; IEA:Ensembl.
DR GO; GO:0035094; P:response to nicotine; IEA:Ensembl.
DR GO; GO:0007622; P:rhythmic behavior; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR GO; GO:0035176; P:social behavior; IEA:Ensembl.
DR GO; GO:0062094; P:stomach development; IEA:Ensembl.
DR GO; GO:0086005; P:ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
DR Gene3D; 1.20.120.350; -; 1.
DR InterPro; IPR005821; Ion_trans_dom.
DR InterPro; IPR003937; K_chnl_volt-dep_KCNQ.
DR InterPro; IPR013821; K_chnl_volt-dep_KCNQ_C.
DR InterPro; IPR005827; K_chnl_volt-dep_KCQN1.
DR InterPro; IPR028325; VG_K_chnl.
DR InterPro; IPR027359; Volt_channel_dom_sf.
DR PANTHER; PTHR11537; PTHR11537; 1.
DR PANTHER; PTHR11537:SF266; PTHR11537:SF266; 1.
DR Pfam; PF00520; Ion_trans; 1.
DR Pfam; PF03520; KCNQ_channel; 1.
DR PRINTS; PR01460; KCNQ1CHANNEL.
DR PRINTS; PR01459; KCNQCHANNEL.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Atrial fibrillation;
KW Calmodulin-binding; Cell membrane; Coiled coil; Cytoplasmic vesicle;
KW Deafness; Diabetes mellitus; Disease variant; Endoplasmic reticulum;
KW Endosome; Glycoprotein; Ion channel; Ion transport; Long QT syndrome;
KW Membrane; Phosphoprotein; Potassium; Potassium channel;
KW Potassium transport; Reference proteome; Short QT syndrome; Transmembrane;
KW Transmembrane helix; Transport; Ubl conjugation; Voltage-gated channel.
FT CHAIN 1..676
FT /note="Potassium voltage-gated channel subfamily KQT member
FT 1"
FT /id="PRO_0000054022"
FT TOPO_DOM 1..121
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 122..142
FT /note="Helical; Name=Segment S1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 143..147
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 148..168
FT /note="Helical; Name=Segment S2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 169..196
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 197..217
FT /note="Helical; Name=Segment S3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 218..225
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 226..248
FT /note="Helical; Voltage-sensor; Name=Segment S4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 249..261
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 262..282
FT /note="Helical; Name=Segment S5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 283..299
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT INTRAMEM 300..320
FT /note="Pore-forming; Name=Segment H5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 321..327
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 328..348
FT /note="Helical; Name=Segment S6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 349..676
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 62..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 370..382
FT /note="Interaction with CALM"
FT /evidence="ECO:0000269|PubMed:25441029"
FT REGION 515..529
FT /note="Interaction with CALM; calcium-dependent"
FT /evidence="ECO:0000269|PubMed:25441029"
FT REGION 535..572
FT /note="Interaction with KCNE1 C-terminus"
FT /evidence="ECO:0000269|PubMed:25037568"
FT REGION 588..616
FT /note="Interaction with AKAP9"
FT /evidence="ECO:0000269|PubMed:11799244"
FT REGION 589..620
FT /note="C-terminal assembly domain"
FT /evidence="ECO:0000269|PubMed:10654932"
FT REGION 620..676
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 585..621
FT /evidence="ECO:0000269|PubMed:19693805"
FT MOTIF 312..317
FT /note="Selectivity filter"
FT /evidence="ECO:0000250"
FT COMPBIAS 62..80
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 27
FT /note="Phosphoserine; by PKA"
FT /evidence="ECO:0000269|PubMed:11799244"
FT MOD_RES 407
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97414"
FT MOD_RES 409
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97414"
FT CARBOHYD 289
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..127
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9305853"
FT /id="VSP_000981"
FT VAR_SEQ 128..129
FT /note="AV -> MD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9305853"
FT /id="VSP_000982"
FT VARIANT 2
FT /note="A -> V (in LQT1; unknown pathological significance;
FT dbSNP:rs199473442)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074927"
FT VARIANT 7
FT /note="P -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs199473443)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074928"
FT VARIANT 46
FT /note="A -> T (in LQT1; unknown pathological significance;
FT hardly any effect on channel activity, shows fast
FT activation; dbSNP:rs199473671)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:19808498"
FT /id="VAR_074929"
FT VARIANT 64..70
FT /note="Missing (in LQT1; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074930"
FT VARIANT 66
FT /note="S -> F (in LQT1; unknown pathological significance;
FT dbSNP:rs199473446)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074931"
FT VARIANT 71..73
FT /note="Missing (in LQT1)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_009917"
FT VARIANT 73
FT /note="P -> T (in LQT1; unknown pathological significance;
FT dbSNP:rs199472676)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068287"
FT VARIANT 111
FT /note="Y -> C (in LQT1; unknown pathological significance;
FT dbSNP:rs199472678)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009918"
FT VARIANT 115
FT /note="E -> G (in LQT1; dbSNP:rs199472679)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068288"
FT VARIANT 117
FT /note="P -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs120074191)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074932"
FT VARIANT 122
FT /note="C -> Y (in LQT1; dbSNP:rs199472681)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068289"
FT VARIANT 127
FT /note="F -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs199472682)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074933"
FT VARIANT 133
FT /note="V -> I (in LQT1; dbSNP:rs199473449)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068290"
FT VARIANT 134
FT /note="L -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472685)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074934"
FT VARIANT 136
FT /note="C -> F (in LQT1; dbSNP:rs199472686)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068291"
FT VARIANT 137
FT /note="L -> F (in LQT1; unknown pathological significance;
FT dbSNP:rs199473450)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074935"
FT VARIANT 140
FT /note="S -> G (in ATFB3; gain of function;
FT dbSNP:rs120074192)"
FT /evidence="ECO:0000269|PubMed:12522251"
FT /id="VAR_015742"
FT VARIANT 144
FT /note="T -> A (in LQT1; unknown pathological significance;
FT dbSNP:rs199473451)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074936"
FT VARIANT 146
FT /note="E -> K (in LQT1; unknown pathological significance;
FT dbSNP:rs199472688)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074937"
FT VARIANT 153
FT /note="T -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs143709408)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074938"
FT VARIANT 157
FT /note="F -> C (in LQT1; dbSNP:rs199472690)"
FT /evidence="ECO:0000269|PubMed:10220146"
FT /id="VAR_008124"
FT VARIANT 160
FT /note="E -> K (in LQT1; dbSNP:rs199473453)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_009919"
FT VARIANT 162
FT /note="V -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs199472692)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074939"
FT VARIANT 167..168
FT /note="FG -> W (in LQT1)"
FT /id="VAR_001515"
FT VARIANT 168
FT /note="G -> R (in LQT1; dbSNP:rs179489)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9693036"
FT /id="VAR_001516"
FT VARIANT 172
FT /note="V -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs199472694)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074940"
FT VARIANT 173
FT /note="V -> D (in LQT1; affects channel activity; when
FT expressed in heterologous system the mutant significantly
FT reduces total IKs steady-state and tail currents with a
FT positive shift of the voltage dependence of activation;
FT dbSNP:rs199472695)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:34398675"
FT /id="VAR_074941"
FT VARIANT 174
FT /note="R -> C (in LQT1; dbSNP:rs199472696)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_001517"
FT VARIANT 174
FT /note="R -> H (in LQT1; dbSNP:rs199472697)"
FT /evidence="ECO:0000269|PubMed:10367071,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_008939"
FT VARIANT 174
FT /note="R -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472697)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074942"
FT VARIANT 178
FT /note="A -> P (in LQT1; loss of channel activity;
FT dbSNP:rs120074177)"
FT /evidence="ECO:0000269|PubMed:9323054"
FT /id="VAR_001518"
FT VARIANT 178
FT /note="A -> T (in LQT1; dbSNP:rs120074177)"
FT /evidence="ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:9024139"
FT /id="VAR_009920"
FT VARIANT 179
FT /note="G -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs199473394)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009921"
FT VARIANT 184
FT /note="Y -> H (in LQT1; unknown pathological significance;
FT dbSNP:rs199473661)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074943"
FT VARIANT 184
FT /note="Y -> S (in LQT1; dbSNP:rs199473397)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_008125"
FT VARIANT 186
FT /note="G -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199473398)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074944"
FT VARIANT 189
FT /note="G -> R (in LQT1; familial sudden death;
FT dbSNP:rs104894252)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_001519"
FT VARIANT 190
FT /note="R -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs120074178)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074945"
FT VARIANT 190
FT /note="R -> Q (in LQT1; loss of channel activity;
FT dbSNP:rs120074178)"
FT /evidence="ECO:0000269|PubMed:10728423,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_001520"
FT VARIANT 190
FT /note="R -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs199473662)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074946"
FT VARIANT 191
FT /note="L -> P (in LQT1; dbSNP:rs199473401)"
FT /evidence="ECO:0000269|PubMed:12442276"
FT /id="VAR_074687"
FT VARIANT 192
FT /note="R -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472698)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074947"
FT VARIANT 194
FT /note="A -> P (in LQT1; dbSNP:rs199472699)"
FT /id="VAR_009922"
FT VARIANT 195
FT /note="R -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs150172393)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074948"
FT VARIANT 198
FT /note="I -> V (in LQT1; unknown pathological significance;
FT dbSNP:rs199472700)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074949"
FT VARIANT 199
FT /note="S -> A (in LQT1; unknown pathological significance;
FT dbSNP:rs199472701)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074950"
FT VARIANT 202
FT /note="D -> H (in LQT1; unknown pathological significance;
FT dbSNP:rs199472702)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074951"
FT VARIANT 204
FT /note="I -> F (in LQT1; dbSNP:rs199472703)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068292"
FT VARIANT 204
FT /note="I -> M (in LQT1; dbSNP:rs199473455)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074952"
FT VARIANT 209
FT /note="S -> F (in LQT1; unknown pathological significance;
FT dbSNP:rs199472704)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074953"
FT VARIANT 215
FT /note="V -> M (in LQT1; dbSNP:rs17215479)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074954"
FT VARIANT 216
FT /note="G -> R (in LQT1)"
FT /evidence="ECO:0000269|PubMed:9272155"
FT /id="VAR_001521"
FT VARIANT 224
FT /note="T -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs199472706)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074955"
FT VARIANT 225
FT /note="S -> L (in LQT1; dbSNP:rs199473456)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9927399"
FT /id="VAR_009923"
FT VARIANT 231
FT /note="R -> C (in LQT1; dbSNP:rs199473457)"
FT /evidence="ECO:0000269|PubMed:16922724,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074956"
FT VARIANT 231
FT /note="R -> H (in LQT1; dbSNP:rs199472709)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074957"
FT VARIANT 235
FT /note="I -> N (in LQT1; decreases delayed rectifier
FT potassium current Iks; prevents the up-regulation of Iks
FT through PKA activation; dbSNP:rs199472710)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:24269949"
FT /id="VAR_068293"
FT VARIANT 239
FT /note="L -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199473458)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074958"
FT VARIANT 241
FT /note="V -> G (in LQT1; unknown pathological significance;
FT dbSNP:rs199472711)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074959"
FT VARIANT 242
FT /note="D -> N (in LQT1; decreases outward potassium
FT current; decreases plasma membrane localization;
FT dbSNP:rs199472712)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:25705178,
FT ECO:0000269|PubMed:9799083"
FT /id="VAR_008940"
FT VARIANT 243
FT /note="R -> C (in LQT1; slower rate of activation and
FT voltage dependence of activation-inactivation shifted to
FT more positive potentials (homomultimers); channels non-
FT functional (heteromultimers); dbSNP:rs199472713)"
FT /evidence="ECO:0000269|PubMed:10409658,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_010933"
FT VARIANT 243
FT /note="R -> H (in JLNS1; minor changes of wt current
FT (homomultimers); positive voltage shift of the channel
FT activation (heteromultimers); dbSNP:rs120074196)"
FT /evidence="ECO:0000269|PubMed:10090886,
FT ECO:0000269|PubMed:10728423"
FT /id="VAR_008941"
FT VARIANT 243
FT /note="R -> P (in LQT1; complete loss of outward potassium
FT current; enhances outward potassium current when co-
FT transfected with wild type; decreases plasma membrane
FT localization; dbSNP:rs120074196)"
FT /evidence="ECO:0000269|PubMed:16922724,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_074688"
FT VARIANT 248
FT /note="W -> F (in JLNS1; requires 2 nucleotide
FT substitutions; does not affect plasma membrane
FT localization; complete loss of outward currents; enhances
FT outward currents when coexpressed with wild type at
FT equimolar ratio; dbSNP:rs397508123)"
FT /evidence="ECO:0000269|PubMed:18441444,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_074689"
FT VARIANT 248
FT /note="W -> R (in LQT1; slower rate of activation and
FT voltage dependence of activation-inactivation shifted to
FT more positive potentials (homomultimers); channels non-
FT functional (heteromultimers); dbSNP:rs199473459)"
FT /evidence="ECO:0000269|PubMed:10409658"
FT /id="VAR_008942"
FT VARIANT 250
FT /note="L -> H (in LQT1; complete loss of outward potassium
FT current; enhances outward potassium current when co-
FT transfected with wild type; decreases plasma membrane
FT localization; dbSNP:rs199472715)"
FT /evidence="ECO:0000269|PubMed:25705178,
FT ECO:0000269|PubMed:9799083"
FT /id="VAR_008943"
FT VARIANT 250
FT /note="L -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472715)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074960"
FT VARIANT 254..256
FT /note="Missing (in LQT1)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068294"
FT VARIANT 254
FT /note="V -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs120074179)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074961"
FT VARIANT 254
FT /note="V -> M (in LQT1; associated with M-417 in a patient;
FT dbSNP:rs120074179)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|Ref.32"
FT /id="VAR_001522"
FT VARIANT 258
FT /note="H -> N (in LQT1; unknown pathological significance;
FT dbSNP:rs199472717)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074962"
FT VARIANT 258
FT /note="H -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199472718)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074963"
FT VARIANT 259
FT /note="R -> C (in LQT1; dbSNP:rs199472719)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085"
FT /id="VAR_068295"
FT VARIANT 259
FT /note="R -> H (in LQT1; unknown pathological significance;
FT dbSNP:rs199472720)"
FT /evidence="ECO:0000269|PubMed:16922724"
FT /id="VAR_074964"
FT VARIANT 259
FT /note="R -> L (in LQT1; dbSNP:rs199472720)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068296"
FT VARIANT 261
FT /note="E -> D (in JLNS1; dbSNP:rs199472721)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_008944"
FT VARIANT 261
FT /note="E -> K (in LQT1; loss of channel activity and no
FT interaction with wt KVLQT1 or MINK subunits;
FT dbSNP:rs199472722)"
FT /evidence="ECO:0000269|PubMed:10409658"
FT /id="VAR_001523"
FT VARIANT 262
FT /note="L -> V (in LQT1; dbSNP:rs199472723)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074965"
FT VARIANT 265
FT /note="T -> I (in LQT1; unknown pathological significance;
FT no effect on channel activity; dbSNP:rs199472724)"
FT /evidence="ECO:0000269|PubMed:19808498"
FT /id="VAR_080331"
FT VARIANT 266
FT /note="L -> P (in LQT1; dbSNP:rs199473460)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_009924"
FT VARIANT 268
FT /note="I -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs199472725)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074966"
FT VARIANT 269
FT /note="G -> D (in LQT1; dbSNP:rs120074194)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_001524"
FT VARIANT 269
FT /note="G -> S (in LQT1; decreases IKs amplitude;
FT accelerates the IKs deactivation; effect on plasma membrane
FT localization; reduces up-regulation of Iks through PKA
FT activation; dbSNP:rs120074193)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:24184248"
FT /id="VAR_009925"
FT VARIANT 272
FT /note="G -> D (in LQT1; dbSNP:rs199472726)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074967"
FT VARIANT 273
FT /note="L -> F (in LQT1; functional channel with reduced
FT macroscopic conductance (homomultimers); alteration of
FT normal KVLQT1 function (mut/wt homomultimers);
FT dbSNP:rs120074180)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:9323054"
FT /id="VAR_001525"
FT VARIANT 273
FT /note="L -> R (in LQT1; dbSNP:rs199472727)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068297"
FT VARIANT 274
FT /note="I -> V (in LQT1; unknown pathological significance;
FT dbSNP:rs199472728)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074968"
FT VARIANT 275
FT /note="F -> S (in LQT1; dbSNP:rs199472729)"
FT /evidence="ECO:0000269|PubMed:12442276"
FT /id="VAR_074690"
FT VARIANT 276
FT /note="Missing (in LQT1)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068298"
FT VARIANT 277
FT /note="S -> L (in LQT1; loss of function mutation acting in
FT a dominant-negative manner; dbSNP:rs199472730)"
FT /evidence="ECO:0000269|PubMed:12442276,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:21241800"
FT /id="VAR_065777"
FT VARIANT 277
FT /note="S -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199473461)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074969"
FT VARIANT 277
FT /note="S -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs199472730)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074970"
FT VARIANT 278
FT /note="Y -> H (in LQT1; dbSNP:rs199472731)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068299"
FT VARIANT 280
FT /note="V -> E (in LQT1; dbSNP:rs199473462)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074971"
FT VARIANT 281
FT /note="Y -> C (in LQT1; dbSNP:rs199472732)"
FT /evidence="ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:9927399"
FT /id="VAR_008945"
FT VARIANT 282
FT /note="L -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472733)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074972"
FT VARIANT 283
FT /note="A -> G (in LQT1; unknown pathological significance;
FT dbSNP:rs199473463)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074973"
FT VARIANT 287
FT /note="A -> E (in LQT1; unknown pathological significance;
FT dbSNP:rs199472735)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074974"
FT VARIANT 290
FT /note="E -> K (in LQT1; dbSNP:rs199473464)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068300"
FT VARIANT 292
FT /note="G -> D (in LQT1; dbSNP:rs199472736)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068301"
FT VARIANT 293
FT /note="R -> C (in LQT1; dbSNP:rs199472737)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068302"
FT VARIANT 296
FT /note="F -> S (in LQT1; loss of channel activity;
FT dbSNP:rs199472738)"
FT /evidence="ECO:0000269|PubMed:19808498"
FT /id="VAR_080332"
FT VARIANT 300
FT /note="A -> T (in LQT1; dbSNP:rs120074187)"
FT /evidence="ECO:0000269|PubMed:9641694"
FT /id="VAR_001526"
FT VARIANT 302
FT /note="A -> E (in LQT1; unknown pathological significance;
FT dbSNP:rs193922365)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074975"
FT VARIANT 302
FT /note="A -> T (in LQT1; unknown pathological significance;
FT dbSNP:rs199472739)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074976"
FT VARIANT 302
FT /note="A -> V (in LQT1; loss of channel activity;
FT dbSNP:rs193922365)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:19808498"
FT /id="VAR_068303"
FT VARIANT 303
FT /note="L -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472740)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074977"
FT VARIANT 304
FT /note="W -> R (in LQT1; dbSNP:rs199473466)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068304"
FT VARIANT 305
FT /note="W -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199472741)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074978"
FT VARIANT 305
FT /note="W -> S (in JLNS1; dbSNP:rs120074186)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9781056"
FT /id="VAR_001527"
FT VARIANT 306
FT /note="G -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs120074181)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_001528"
FT VARIANT 306
FT /note="G -> V (in LQT1; complete loss of outward potassium
FT current; enhances outward potassium current when co-
FT transfected with wild type; decreases plasma membrane
FT localization; dbSNP:rs199472742)"
FT /evidence="ECO:0000269|PubMed:12442276,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_074691"
FT VARIANT 307
FT /note="V -> L (in SQT2; gain of function;
FT dbSNP:rs120074195)"
FT /evidence="ECO:0000269|PubMed:15159330"
FT /id="VAR_023841"
FT VARIANT 308
FT /note="V -> D (in LQT1; unknown pathological significance;
FT dbSNP:rs199473467)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074979"
FT VARIANT 309
FT /note="T -> R (in LQT1; dbSNP:rs199472743)"
FT /id="VAR_001529"
FT VARIANT 310
FT /note="V -> I (in LQT1; dbSNP:rs199472745)"
FT /id="VAR_009926"
FT VARIANT 311
FT /note="T -> I (in LQT1 and JLNS1; impairs outward potassium
FT current; affects plasma membrane localization;
FT dbSNP:rs199472746)"
FT /evidence="ECO:0000269|PubMed:25705178,
FT ECO:0000269|PubMed:9482580"
FT /id="VAR_009927"
FT VARIANT 312
FT /note="T -> I (in LQT1; loss of channel activity;
FT dbSNP:rs120074182)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9323054"
FT /id="VAR_001530"
FT VARIANT 313
FT /note="I -> M (in LQT1; dbSNP:rs199472747)"
FT /evidence="ECO:0000269|PubMed:9024139"
FT /id="VAR_001531"
FT VARIANT 314
FT /note="G -> C (in LQT1; unknown pathological significance;
FT dbSNP:rs120074184)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074980"
FT VARIANT 314
FT /note="G -> D (in LQT1; dbSNP:rs199472748)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068305"
FT VARIANT 314
FT /note="G -> R (in LQT1; dbSNP:rs120074184)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068306"
FT VARIANT 314
FT /note="G -> S (in LQT1; dbSNP:rs120074184)"
FT /evidence="ECO:0000269|PubMed:10220144,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16922724,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:8872472,
FT ECO:0000269|PubMed:9693036, ECO:0000269|PubMed:9799083"
FT /id="VAR_001532"
FT VARIANT 315
FT /note="Y -> C (in LQT1; dbSNP:rs74462309)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:24269949,
FT ECO:0000269|PubMed:9693036, ECO:0000269|PubMed:9927399"
FT /id="VAR_008946"
FT VARIANT 315
FT /note="Y -> S (in LQT1; dbSNP:rs74462309)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_001533"
FT VARIANT 316
FT /note="G -> E (in LQT1; loss of channel activity;
FT dbSNP:rs199472749)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19808498"
FT /id="VAR_074981"
FT VARIANT 316
FT /note="G -> R (in LQT1; dbSNP:rs104894255)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068307"
FT VARIANT 316
FT /note="G -> V (in LQT1; unknown pathological significance;
FT dbSNP:rs199472749)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074982"
FT VARIANT 317
FT /note="D -> N (in LQT1; complete loss of outward potassium
FT current when expressed alone and even in the presence of
FT the wild type at variable ratios; decreases plasma membrane
FT localization; dbSNP:rs199472751)"
FT /evidence="ECO:0000269|PubMed:25705178,
FT ECO:0000269|PubMed:9302275, ECO:0000269|PubMed:9482580"
FT /id="VAR_001534"
FT VARIANT 318
FT /note="K -> N (in LQT1; dbSNP:rs199472752)"
FT /evidence="ECO:0000269|PubMed:9693036"
FT /id="VAR_008947"
FT VARIANT 320
FT /note="P -> A (in LQT1; loss of function mutation acting in
FT a dominant-negative manner; dbSNP:rs199472753)"
FT /evidence="ECO:0000269|PubMed:19540844"
FT /id="VAR_001535"
FT VARIANT 320
FT /note="P -> H (in LQT1; loss of function mutation acting in
FT a dominant-negative manner; dbSNP:rs199473470)"
FT /evidence="ECO:0000269|PubMed:19540844"
FT /id="VAR_065778"
FT VARIANT 320
FT /note="P -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs199472753)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074983"
FT VARIANT 322
FT /note="T -> A (in LQT1; dbSNP:rs199472754)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:24269949"
FT /id="VAR_068308"
FT VARIANT 322
FT /note="T -> M (in JLNS1 and LQT1; impairs outward potassium
FT current; affects plasma membrane localization;
FT dbSNP:rs199472755)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:18400097, ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_074692"
FT VARIANT 325
FT /note="G -> R (in LQT1; dbSNP:rs199472756)"
FT /evidence="ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:9024139"
FT /id="VAR_001536"
FT VARIANT 339
FT /note="F -> S (in LQT1; loss of channel activity;
FT dbSNP:rs199472759)"
FT /evidence="ECO:0000269|PubMed:19808498"
FT /id="VAR_080333"
FT VARIANT 339
FT /note="F -> Y (in LQT1; unknown pathological significance;
FT dbSNP:rs199472759)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074984"
FT VARIANT 339
FT /note="Missing (in LQT1)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:9702906"
FT /id="VAR_001537"
FT VARIANT 341
FT /note="A -> E (in LQT1; dbSNP:rs12720459)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_001538"
FT VARIANT 341
FT /note="A -> G (in LQT1; unknown pathological significance;
FT dbSNP:rs12720459)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074985"
FT VARIANT 341
FT /note="A -> V (in LQT1; dbSNP:rs12720459)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:8818942, ECO:0000269|PubMed:8872472,
FT ECO:0000269|PubMed:9570196"
FT /id="VAR_001539"
FT VARIANT 342
FT /note="L -> F (in LQT1; dbSNP:rs199472760)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_001540"
FT VARIANT 343
FT /note="P -> L (in LQT1; dbSNP:rs199472761)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074986"
FT VARIANT 343
FT /note="P -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199472761)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074987"
FT VARIANT 343
FT /note="P -> S (in LQT1; dbSNP:rs199472762)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068309"
FT VARIANT 344
FT /note="A -> E (in LQT1; dbSNP:rs199472763)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068310"
FT VARIANT 344
FT /note="A -> V (in LQT1; dbSNP:rs199472763)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:16922724"
FT /id="VAR_001541"
FT VARIANT 345
FT /note="G -> E (in LQT1; dbSNP:rs120074183)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_001542"
FT VARIANT 345
FT /note="G -> R (in LQT1; familial sudden death;
FT dbSNP:rs199473471)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_008126"
FT VARIANT 349
FT /note="S -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472764)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074988"
FT VARIANT 349
FT /note="S -> W (in LQT1; dbSNP:rs199472765)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_009928"
FT VARIANT 350
FT /note="G -> R (in LQT1; dbSNP:rs199472824)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074989"
FT VARIANT 351
FT /note="F -> S (in LQT1; dbSNP:rs199473402)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074990"
FT VARIANT 353
FT /note="L -> P (in LQT1; dbSNP:rs199473403)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:9693036"
FT /id="VAR_009180"
FT VARIANT 354
FT /note="K -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199473404)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074991"
FT VARIANT 360
FT /note="R -> G (in LQT1; loss of channel activity;
FT dbSNP:rs199473406)"
FT /evidence="ECO:0000269|PubMed:19808498"
FT /id="VAR_080334"
FT VARIANT 360
FT /note="R -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs199473407)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074992"
FT VARIANT 360
FT /note="R -> T (in LQT1; unknown pathological significance;
FT dbSNP:rs199473407)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074993"
FT VARIANT 362
FT /note="K -> R (in LQT1; dbSNP:rs12720458)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_048025"
FT VARIANT 365
FT /note="N -> H (in LQT1; unknown pathological significance;
FT dbSNP:rs199473409)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074994"
FT VARIANT 366
FT /note="R -> P (in LQT1; dbSNP:rs199473410)"
FT /evidence="ECO:0000269|PubMed:9024139"
FT /id="VAR_001543"
FT VARIANT 366
FT /note="R -> Q (in LQT1; dbSNP:rs199473410)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009929"
FT VARIANT 366
FT /note="R -> W (in LQT1; dbSNP:rs199473411)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9693036"
FT /id="VAR_008948"
FT VARIANT 371
FT /note="A -> T (in LQT1; dbSNP:rs199473412)"
FT /id="VAR_001544"
FT VARIANT 372
FT /note="A -> D (in LQT1; unknown pathological significance;
FT dbSNP:rs199473472)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074995"
FT VARIANT 373
FT /note="S -> P (in LQT1; dbSNP:rs199472766)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_008127"
FT VARIANT 374
FT /note="L -> H (in LQT1; unknown pathological significance;
FT dbSNP:rs199472767)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068311"
FT VARIANT 379
FT /note="W -> G (in LQT1; unknown pathological significance;
FT dbSNP:rs199472768)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074996"
FT VARIANT 380
FT /note="R -> S (in LQT1; dbSNP:rs199472771)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068312"
FT VARIANT 385
FT /note="E -> K (in LQT1; unknown pathological significance;
FT dbSNP:rs199473473)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074997"
FT VARIANT 389
FT /note="S -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472772)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074998"
FT VARIANT 389
FT /note="S -> Y (in LQT1; dbSNP:rs199472773)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068313"
FT VARIANT 391
FT /note="T -> I (in LQT1; dbSNP:rs199473474)"
FT /id="VAR_009930"
FT VARIANT 391
FT /note="T -> TT (in LQT1; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074999"
FT VARIANT 392
FT /note="W -> R (in LQT1; dbSNP:rs199472774)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_008128"
FT VARIANT 393
FT /note="K -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs199472775)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075000"
FT VARIANT 393
FT /note="K -> N (in dbSNP:rs12720457)"
FT /id="VAR_048026"
FT VARIANT 397
FT /note="R -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs199472776)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075001"
FT VARIANT 398
FT /note="K -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199472777)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075002"
FT VARIANT 417
FT /note="V -> M (in LQT1; associated with M-254 in a patient;
FT dbSNP:rs267607197)"
FT /evidence="ECO:0000269|Ref.32"
FT /id="VAR_010934"
FT VARIANT 446
FT /note="D -> E (in LQT1; unknown pathological significance;
FT dbSNP:rs199472780)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075003"
FT VARIANT 448
FT /note="P -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs12720449)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075004"
FT VARIANT 448
FT /note="P -> R (in LQT1; benign variant; dbSNP:rs12720449)"
FT /id="VAR_009931"
FT VARIANT 451
FT /note="R -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs199472782)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075005"
FT VARIANT 452
FT /note="R -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs140452381)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068314"
FT VARIANT 455
FT /note="H -> Y (in LQT1; loss of channel activity;
FT dbSNP:rs199473476)"
FT /evidence="ECO:0000269|PubMed:19808498"
FT /id="VAR_080335"
FT VARIANT 460
FT /note="G -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs199472783)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075006"
FT VARIANT 477
FT /note="P -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs199472784)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075007"
FT VARIANT 511
FT /note="R -> W (in LQT1; unknown pathological significance;
FT dbSNP:rs199472785)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075008"
FT VARIANT 518
FT /note="R -> G (in LQT1; unknown pathological significance;
FT dbSNP:rs17215500)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075009"
FT VARIANT 518
FT /note="R -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs145974930)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075010"
FT VARIANT 518
FT /note="R -> Q (in LQT1; unknown pathological significance;
FT dbSNP:rs145974930)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075011"
FT VARIANT 520
FT /note="M -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199473479)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075012"
FT VARIANT 522
FT /note="Y -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs199472789)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075013"
FT VARIANT 524
FT /note="V -> G (in LQT1; dbSNP:rs199472790)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068315"
FT VARIANT 525
FT /note="A -> T (in LQT1; dbSNP:rs120074188)"
FT /evidence="ECO:0000269|PubMed:10482963,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_009181"
FT VARIANT 525
FT /note="A -> V (in LQT1; unknown pathological significance;
FT dbSNP:rs199472791)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075014"
FT VARIANT 526
FT /note="K -> E (in LQT1; dbSNP:rs199472792)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068316"
FT VARIANT 533
FT /note="R -> W (in LQT1; minor changes of wt current
FT (homomultimers); positive voltage shift of the channel
FT activation (heteromultimers); dbSNP:rs199472793)"
FT /evidence="ECO:0000269|PubMed:10728423,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_008949"
FT VARIANT 539
FT /note="R -> Q (in LQT1; unknown pathological significance;
FT dbSNP:rs199472794)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075015"
FT VARIANT 539
FT /note="R -> W (in LQT1; minor changes of wt current
FT (homomultimers); positive voltage shift of the channel
FT activation (heteromultimers); dbSNP:rs199472795)"
FT /evidence="ECO:0000269|PubMed:10728423,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008950"
FT VARIANT 541
FT /note="V -> I (in LQT1; unknown pathological significance;
FT dbSNP:rs199472796)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075016"
FT VARIANT 543
FT /note="E -> K (in LQT1; unknown pathological significance;
FT dbSNP:rs199472797)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075017"
FT VARIANT 546
FT /note="S -> L (in LQT1; decreases interaction with KCNE1 C-
FT terminus; does not affect plasma membrane localization;
FT reduces IKS current density; impairs binding with
FT phosphatidylinositol 4,5-bisphosphate; loss of channel
FT activity; dbSNP:rs199473480)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:19808498,
FT ECO:0000269|PubMed:25037568"
FT /id="VAR_068317"
FT VARIANT 547
FT /note="Q -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199472798)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075018"
FT VARIANT 548
FT /note="G -> D (in LQT1; unknown pathological significance;
FT dbSNP:rs199472799)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075019"
FT VARIANT 554
FT /note="V -> A (in LQT1; unknown pathological significance;
FT dbSNP:rs199473481)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075020"
FT VARIANT 555
FT /note="R -> C (in LQT1; associated with a fruste phenotype;
FT decreases interaction with KCNE1 C-terminus; does not
FT affect plasma membrane localization; reduces IKS current
FT density; shifts activation of the voltage dependence;
FT deactivates more rapidly; impairs binding with
FT phosphatidylinositol 4,5-bisphosphate; dbSNP:rs120074185)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:25037568,
FT ECO:0000269|PubMed:9312006"
FT /id="VAR_001545"
FT VARIANT 555
FT /note="R -> H (in LQT1; decreases interaction with KCNE1 C-
FT terminus; does not affect plasma membrane localization;
FT reduces IKS current density; impairs binding with
FT Phosphatidylinositol 4,5-bisphosphate; dbSNP:rs199472800)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:25037568"
FT /id="VAR_068318"
FT VARIANT 555
FT /note="R -> S (in LQT1; unknown pathological significance;
FT dbSNP:rs120074185)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075021"
FT VARIANT 557
FT /note="K -> E (in LQT1; no effect on cell membrane
FT localization; slows activation kinetics; accelerates
FT deactivation kinetics; rightshifts the voltage-dependent
FT activation; does not affect cAMP-dependent up-regulation;
FT decreases interaction with KCNE1 C-terminus; does not
FT affect plasma membrane localization; does not affect
FT phosphorylation at S-27 during cAMP-dependent stimulation;
FT reduces IKS current density; impairs binding with
FT Phosphatidylinositol 4,5-bisphosphate; dbSNP:rs199472801)"
FT /evidence="ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:25037568, ECO:0000269|PubMed:25139741"
FT /id="VAR_074693"
FT VARIANT 566
FT /note="S -> F (in LQT1; dbSNP:rs199472804)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009932"
FT VARIANT 566
FT /note="S -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472803)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075022"
FT VARIANT 566
FT /note="S -> Y (in LQT1; dbSNP:rs199472804)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068319"
FT VARIANT 567
FT /note="I -> S (in LQT1; dbSNP:rs199472805)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068320"
FT VARIANT 567
FT /note="I -> T (in LQT1; dbSNP:rs199472805)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_075023"
FT VARIANT 568
FT /note="G -> R (in LQT1; dbSNP:rs199472807)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068321"
FT VARIANT 569
FT /note="K -> E (in LQT1; unknown pathological significance;
FT dbSNP:rs199472808)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075024"
FT VARIANT 571
FT /note="S -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs199472809)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075025"
FT VARIANT 573
FT /note="F -> L (in LQT1; unknown pathological significance;
FT dbSNP:rs199472810)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075026"
FT VARIANT 583
FT /note="R -> C (in LQT1; dbSNP:rs17221854)"
FT /id="VAR_009933"
FT VARIANT 583
FT /note="R -> H (in LQT1; unknown pathological significance;
FT dbSNP:rs199473482)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_075027"
FT VARIANT 586
FT /note="N -> D (in LQT1; decreases outward potassium
FT current; decreases plasma membrane localization;
FT dbSNP:rs199472812)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_074694"
FT VARIANT 587
FT /note="T -> M (in LQT1; dbSNP:rs120074189)"
FT /evidence="ECO:0000269|PubMed:10024302,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:9799083"
FT /id="VAR_008951"
FT VARIANT 589
FT /note="G -> D (in LQT1 and JLNS1; affects plasma membrane
FT localization; strongly reduces potassium current; impairs
FT binding to AKAP9 and the targeting protein kinase A (PKA)
FT catalytic subunit and protein phosphatase 1 (PP1);
FT dbSNP:rs120074190)"
FT /evidence="ECO:0000269|PubMed:11799244,
FT ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:25037568,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_008952"
FT VARIANT 590
FT /note="A -> T (in LQT1; reduces IKs density and causes a
FT right-shift of the current?voltage relation of channel
FT activation; reduces cell surface expression; no effect on
FT interaction with AKAP9; does not affect the cAMP-dependent
FT IKs up-regulation; dbSNP:rs199472813)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:24713462"
FT /id="VAR_068322"
FT VARIANT 591
FT /note="R -> C (in LQT1; unknown pathological significance;
FT dbSNP:rs199473483)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075028"
FT VARIANT 591
FT /note="R -> H (in LQT1; dbSNP:rs199472814)"
FT /evidence="ECO:0000269|PubMed:10024302,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008953"
FT VARIANT 594
FT /note="R -> P (in LQT1; unknown pathological significance;
FT dbSNP:rs199472815)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075029"
FT VARIANT 594
FT /note="R -> Q (in LQT1; dbSNP:rs199472815)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_009934"
FT VARIANT 596
FT /note="E -> K (in LQT1; unknown pathological significance;
FT dbSNP:rs199472816)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075030"
FT VARIANT 596
FT /note="Missing (in LQT1; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075031"
FT VARIANT 600
FT /note="T -> M (in LQT1; unknown pathological significance;
FT dbSNP:rs34516117)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075032"
FT VARIANT 611
FT /note="D -> N (in LQT1; unknown pathological significance;
FT dbSNP:rs147445322)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075033"
FT VARIANT 614
FT /note="Missing (in LQT1; unknown pathological significance;
FT dbSNP:rs397508101)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075034"
FT VARIANT 619
FT /note="L -> M (in LQT1; decreases outward potassium
FT current; decreases plasma membrane localization;
FT dbSNP:rs199472819)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:25705178"
FT /id="VAR_068323"
FT VARIANT 626
FT /note="G -> S (in LQT1; dbSNP:rs199472821)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085"
FT /id="VAR_068324"
FT VARIANT 635
FT /note="G -> R (in LQT1; unknown pathological significance;
FT dbSNP:rs199473484)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_075035"
FT VARIANT 643
FT /note="G -> S (in dbSNP:rs1800172)"
FT /evidence="ECO:0000269|PubMed:9799083"
FT /id="VAR_008954"
FT MUTAGEN 27
FT /note="S->A: No phosphorylation by PKA. Decreases delayed
FT rectifier potassium channel activity."
FT /evidence="ECO:0000269|PubMed:11799244"
FT MUTAGEN 324
FT /note="V->L: Has a voltage-gated potassium channel
FT activity. Inhibition of voltage-gated potassium channel
FT activity by KCNE4."
FT /evidence="ECO:0000269|PubMed:19687231"
FT MUTAGEN 326
FT /note="K->R: Has a voltage-gated potassium channel
FT activity. Disrupts KCNE4-mediated voltage-gated potassium
FT channel activity inhibition."
FT /evidence="ECO:0000269|PubMed:19687231"
FT MUTAGEN 327
FT /note="T->V: Has a voltage-gated potassium channel
FT activity. Disrupts KCNE4-mediated voltage-gated potassium
FT channel activity inhibition."
FT /evidence="ECO:0000269|PubMed:19687231"
FT MUTAGEN 328
FT /note="I->L: Has a voltage-gated potassium channel
FT activity. Inhibition of voltage-gated potassium channel
FT activity by KCNE4."
FT /evidence="ECO:0000269|PubMed:19687231"
FT MUTAGEN 338
FT /note="S->C: Inhibits voltage-gated potassium channel
FT activity."
FT /evidence="ECO:0000269|PubMed:19687231"
FT MUTAGEN 340
FT /note="F->C: Inhibits voltage-gated potassium channel
FT activity."
FT /evidence="ECO:0000269|PubMed:19687231"
FT MUTAGEN 375
FT /note="I->D: Reduced protein expression, probably due to
FT misfolding and proteasomal degradation. No detectable
FT electrophysiological activity. Reduced electrophysiological
FT activity in the presence of KCNE1."
FT /evidence="ECO:0000269|PubMed:25441029"
FT MUTAGEN 516
FT /note="V->D: Reduced protein expression, probably due to
FT misfolding and proteasomal degradation. Significantly
FT reduced electrophysiological activity. Reduced
FT electrophysiological activity in the presence of KCNE1."
FT /evidence="ECO:0000269|PubMed:25441029"
FT MUTAGEN 589
FT /note="G->M: No effect."
FT /evidence="ECO:0000269|PubMed:18165683"
FT MUTAGEN 590
FT /note="A->W: Reduced cell surface expression and strongly
FT reduced potassium current."
FT /evidence="ECO:0000269|PubMed:18165683"
FT MUTAGEN 593
FT /note="N->G: Reduced cell surface expression and moderately
FT reduced potassium current."
FT /evidence="ECO:0000269|PubMed:18165683"
FT MUTAGEN 602
FT /note="L->A: Does not interact with AKAP9 and the targeting
FT protein kinase A (PKA) catalytic subunit and protein
FT phosphatase 1 (PP1); when associated with I-609."
FT /evidence="ECO:0000269|PubMed:11799244"
FT MUTAGEN 609
FT /note="I->A: Does not interact with AKAP9 and the kinase A
FT (PKA) catalytic subunit and protein phosphatase 1 (PP1);
FT when associated with L-602."
FT /evidence="ECO:0000269|PubMed:11799244"
FT CONFLICT 64..65
FT /note="PA -> HV (in Ref. 4; CAB44649)"
FT /evidence="ECO:0000305"
FT CONFLICT 370
FT /note="Missing (in Ref. 2; AAC05705)"
FT /evidence="ECO:0000305"
FT CONFLICT 607..608
FT /note="AL -> VI (in Ref. 5; AAM94040)"
FT /evidence="ECO:0000305"
FT CONFLICT 619..644
FT /note="LHGGSTPGSGGPPREGGAHITQPCGS -> MQQGGPTCNSRSQVVASNE
FT (in Ref. 5; AAM94040)"
FT /evidence="ECO:0000305"
FT CONFLICT 648..649
FT /note="VD -> IN (in Ref. 5; AAM94040)"
FT /evidence="ECO:0000305"
FT CONFLICT 658
FT /note="T -> S (in Ref. 5; AAM94040)"
FT /evidence="ECO:0000305"
FT CONFLICT 669..670
FT /note="RR -> QT (in Ref. 5; AAM94040)"
FT /evidence="ECO:0000305"
FT HELIX 105..114
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 121..142
FT /evidence="ECO:0007829|PDB:6UZZ"
FT TURN 146..150
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 151..154
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 157..177
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 178..180
FT /evidence="ECO:0007829|PDB:6UZZ"
FT STRAND 181..184
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 187..193
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 197..215
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 224..236
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 237..240
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 243..245
FT /evidence="ECO:0007829|PDB:6V00"
FT HELIX 246..257
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 259..284
FT /evidence="ECO:0007829|PDB:6UZZ"
FT STRAND 290..292
FT /evidence="ECO:0007829|PDB:6V00"
FT HELIX 299..310
FT /evidence="ECO:0007829|PDB:6UZZ"
FT STRAND 316..318
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 323..335
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 338..357
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 359..384
FT /evidence="ECO:0007829|PDB:4V0C"
FT STRAND 386..391
FT /evidence="ECO:0007829|PDB:4V0C"
FT HELIX 392..394
FT /evidence="ECO:0007829|PDB:4V0C"
FT HELIX 502..533
FT /evidence="ECO:0007829|PDB:4V0C"
FT HELIX 538..566
FT /evidence="ECO:0007829|PDB:6UZZ"
FT HELIX 588..609
FT /evidence="ECO:0007829|PDB:3HFE"
SQ SEQUENCE 676 AA; 74699 MW; ADFCA9E2B9763B21 CRC64;
MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG
PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW
KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC
RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH
VDRQGGTWRL LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA
DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG FALKVQQKQR
QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK
KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM
RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD
VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT
QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP ELFLPSNTLP
TYEQLTVPRR GPDEGS
