KCNH2_HUMAN
ID KCNH2_HUMAN Reviewed; 1159 AA.
AC Q12809; A5H1P7; C4PFH9; D3DX04; O75418; O75680; Q708S9; Q9BT72; Q9BUT7;
AC Q9H3P0;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 230.
DE RecName: Full=Potassium voltage-gated channel subfamily H member 2;
DE AltName: Full=Eag homolog;
DE AltName: Full=Ether-a-go-go-related gene potassium channel 1;
DE Short=ERG-1;
DE Short=Eag-related protein 1;
DE Short=Ether-a-go-go-related protein 1;
DE Short=H-ERG;
DE Short=hERG-1;
DE Short=hERG1;
DE AltName: Full=Voltage-gated potassium channel subunit Kv11.1;
GN Name=KCNH2; Synonyms=ERG, ERG1, HERG;
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 A).
RC TISSUE=Hippocampus;
RX PubMed=8159766; DOI=10.1073/pnas.91.8.3438;
RA Warmke J.W., Ganetzky B.;
RT "A family of potassium channel genes related to eag in Drosophila and
RT mammals.";
RL Proc. Natl. Acad. Sci. U.S.A. 91:3438-3442(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM A), AND VARIANT LQT2 CYS-534.
RX PubMed=9600240; DOI=10.1007/s004390050717;
RA Itoh T., Tanaka T., Nagai R., Kamiya T., Sawayama T., Nakayama T.,
RA Tomoike H., Sakurada H., Yazaki Y., Nakamura Y.;
RT "Genomic organization and mutational analysis of HERG, a gene responsible
RT for familial long QT syndrome.";
RL Hum. Genet. 102:435-439(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A-USO).
RC TISSUE=Heart;
RX PubMed=11374908; DOI=10.1006/geno.2001.6527;
RA Soejima H., Kawamoto S., Akai J., Miyoshi O., Arai Y., Morohka T.,
RA Matsuo S., Niikawa N., Kimura A., Okubo K., Mukai T.;
RT "Isolation of novel heart-specific genes using the BodyMap database.";
RL Genomics 74:115-120(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
RA Downie D., Chapman C.G., Punia P., Rice S., Bahmani F., Murdock P.,
RA Pearson N., Randall A.D., Meadows H.J.;
RT "Potent inhibition of HERG K+ channels by the neuroprotective agent
RT Sipatrigine.";
RL Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
RX PubMed=12431979; DOI=10.1074/jbc.m210789200;
RA Crociani O., Guasti L., Balzi M., Becchetti A., Wanke E., Olivotto M.,
RA Wymore R.S., Arcangeli A.;
RT "Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor
RT cells.";
RL J. Biol. Chem. 278:2947-2955(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B-USO), FUNCTION, SUBCELLULAR LOCATION,
RP AND TISSUE SPECIFICITY.
RX PubMed=18559421; DOI=10.1128/mcb.00304-08;
RA Guasti L., Crociani O., Redaelli E., Pillozzi S., Polvani S., Masselli M.,
RA Mello T., Galli A., Amedei A., Wymore R.S., Wanke E., Arcangeli A.;
RT "Identification of a posttranslational mechanism for the regulation of
RT hERG1 K+ channel expression and hERG1 current density in tumor cells.";
RL Mol. Cell. Biol. 28:5043-5060(2008).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3.1), AND SUBCELLULAR LOCATION.
RC TISSUE=Brain;
RX PubMed=19412172; DOI=10.1038/nm.1962;
RA Huffaker S.J., Chen J., Nicodemus K.K., Sambataro F., Yang F., Mattay V.,
RA Lipska B.K., Hyde T.M., Song J., Rujescu D., Giegling I., Mayilyan K.,
RA Proust M.J., Soghoyan A., Caforio G., Callicott J.H., Bertolino A.,
RA Meyer-Lindenberg A., Chang J., Ji Y., Egan M.F., Goldberg T.E.,
RA Kleinman J.E., Lu B., Weinberger D.R.;
RT "A primate-specific, brain isoform of KCNH2 affects cortical physiology,
RT cognition, neuronal repolarization and risk of schizophrenia.";
RL Nat. Medicines 15:509-518(2009).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-376 (ISOFORM B).
RC TISSUE=Heart;
RX PubMed=9351462; DOI=10.1161/01.res.81.5.870;
RA London B., Trudeau M.C., Newton K.P., Beyer A.K., Copeland N.G.,
RA Gilbert D.J., Jenkins N.A., Satler C.A., Robertson G.A.;
RT "Two isoforms of the mouse ether-a-go-go-related gene coassemble to form
RT channels with properties similar to the rapidly activating component of the
RT cardiac delayed rectifier K+ current.";
RL Circ. Res. 81:870-878(1997).
RN [12]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-376 (ISOFORM B).
RC TISSUE=Heart atrium;
RX PubMed=9351446; DOI=10.1161/01.res.81.5.719;
RA Lees-Miller J.P., Kondo C., Wang L., Duff H.J.;
RT "Electrophysiological characterization of an alternatively processed ERG K+
RT channel in mouse and human hearts.";
RL Circ. Res. 81:719-726(1997).
RN [13]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 27-1159 (ISOFORM A), AND VARIANT
RP GLY-ALA-GLY-189 INS.
RX PubMed=10790218;
RX DOI=10.1002/(sici)1098-1004(200005)15:5<483::aid-humu18>3.0.co;2-t;
RA Paulussen A., Yang P., Pangalos M., Verhasselt P., Marrannes R.,
RA Verfaille C., Vandenberk I., Crabbe R., Konings F., Luyten W.,
RA Armstrong M.;
RT "Analysis of the human KCNH2(HERG) gene: identification and
RT characterization of a novel mutation Y667X associated with long QT syndrome
RT and a non-pathological 9 bp insertion.";
RL Hum. Mutat. 15:483-483(2000).
RN [14]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-800 (ISOFORM 4), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 716-1159 (ISOFORMS A/B).
RC TISSUE=Brain;
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 [15]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 795-888 (ISOFORM A-USO).
RC TISSUE=Heart ventricle;
RX PubMed=9765245; DOI=10.1074/jbc.273.42.27231;
RA Kupershmidt S., Snyders D.J., Raes A., Roden D.M.;
RT "A K+ channel splice variant common in human heart lacks a C-terminal
RT domain required for expression of rapidly activating delayed rectifier
RT current.";
RL J. Biol. Chem. 273:27231-27235(1998).
RN [16]
RP MUTAGENESIS OF ASN-598; ASN-629 AND SER-631, AND GLYCOSYLATION AT ASN-598.
RX PubMed=12063277; DOI=10.1152/ajpheart.00008.2002;
RA Gong Q., Anderson C.L., January C.T., Zhou Z.;
RT "Role of glycosylation in cell surface expression and stability of HERG
RT potassium channels.";
RL Am. J. Physiol. 283:H77-H84(2002).
RN [17]
RP MUTAGENESIS OF SER-283; SER-890; THR-895 AND SER-1137, AND PHOSPHORYLATION.
RX PubMed=10837251; DOI=10.1016/s0960-9822(00)00516-9;
RA Cui J., Melman Y., Palma E., Fishman G.I., McDonald T.V.;
RT "Cyclic AMP regulates the HERG K(+) channel by dual pathways.";
RL Curr. Biol. 10:671-674(2000).
RN [18]
RP INTERACTION WITH KCNE1.
RX PubMed=9230439; DOI=10.1038/40882;
RA McDonald T.V., Yu Z., Ming Z., Palma E., Meyers M.B., Wang K.-W.,
RA Goldstein S.A.N., Fishman G.I.;
RT "A minK-HERG complex regulates the cardiac potassium current I(Kr).";
RL Nature 388:289-292(1997).
RN [19]
RP INTERACTION WITH KCNE2.
RX PubMed=10219239; DOI=10.1016/s0092-8674(00)80728-x;
RA Abbott G.W., Sesti F., Splawski I., Buck M.E., Lehmann M.H., Timothy K.W.,
RA Keating M.T., Goldstein S.A.N.;
RT "MiRP1 forms IKr potassium channels with HERG and is associated with
RT cardiac arrhythmia.";
RL Cell 97:175-187(1999).
RN [20]
RP INTERACTION WITH CANX, AND CHARACTERIZATION OF VARIANT LQT2 ASP-470.
RX PubMed=16361248; DOI=10.1074/jbc.m511765200;
RA Gong Q., Jones M.A., Zhou Z.;
RT "Mechanisms of pharmacological rescue of trafficking-defective hERG mutant
RT channels in human long QT syndrome.";
RL J. Biol. Chem. 281:4069-4074(2006).
RN [21]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-320, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [22]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-239; SER-320; SER-871 AND
RP SER-1137, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [23]
RP INTERACTION WITH RNF207, AND INDUCTION BY RNF207.
RX PubMed=25281747; DOI=10.1074/jbc.m114.592295;
RA Roder K., Werdich A.A., Li W., Liu M., Kim T.Y., Organ-Darling L.E.,
RA Moshal K.S., Hwang J.M., Lu Y., Choi B.R., MacRae C.A., Koren G.;
RT "RING finger protein RNF207, a novel regulator of cardiac excitation.";
RL J. Biol. Chem. 289:33730-33740(2014).
RN [24]
RP FUNCTION, INTERACTION WITH NDFIP1 AND NDFIP2, AND SUBCELLULAR LOCATION.
RX PubMed=26363003; DOI=10.1042/bj20141282;
RA Kang Y., Guo J., Yang T., Li W., Zhang S.;
RT "Regulation of the human ether-a-go-go-related gene (hERG) potassium
RT channel by Nedd4 family interacting proteins (Ndfips).";
RL Biochem. J. 472:71-82(2015).
RN [25]
RP FUNCTION, SUBUNIT, INTERACTION WITH DNAJB12 AND DNAJB14, VARIANT LQT2
RP TYR-64, AND CHARACTERIZATION OF VARIANTS LQT2 TYR-64 AND PRO-65.
RX PubMed=27916661; DOI=10.1016/j.molcel.2016.10.027;
RA Li K., Jiang Q., Bai X., Yang Y.F., Ruan M.Y., Cai S.Q.;
RT "Tetrameric assembly of K(+) channels requires ER-located chaperone
RT proteins.";
RL Mol. Cell 65:52-65(2017).
RN [26]
RP X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 1-135, AND MUTAGENESIS OF PHE-29
RP AND TYR-43.
RX PubMed=9845367; DOI=10.1016/s0092-8674(00)81635-9;
RA Morais Cabral J.H., Lee A., Cohen S.L., Chait B.T., Li M., Mackinnon R.;
RT "Crystal structure and functional analysis of the HERG potassium channel N-
RT terminus: a eukaryotic PAS domain.";
RL Cell 95:649-655(1998).
RN [27]
RP VARIANTS LQT2 ASP-470; VAL-561 AND SER-628.
RX PubMed=7889573; DOI=10.1016/0092-8674(95)90358-5;
RA Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D.,
RA Keating M.T.;
RT "A molecular basis for cardiac arrhythmia: HERG mutations cause long QT
RT syndrome.";
RL Cell 80:795-803(1995).
RN [28]
RP VARIANT LQT2 MET-822.
RX PubMed=8914737;
RX DOI=10.1002/(sici)1096-8628(19961002)65:1<27::aid-ajmg4>3.0.co;2-v;
RA Satler C.A., Walsh E.P., Vesely M.R., Plummer M.H., Ginsburg G.S.,
RA Jacob H.J.;
RT "Novel missense mutation in the cyclic nucleotide-binding domain of HERG
RT causes long QT syndrome.";
RL Am. J. Med. Genet. 65:27-35(1996).
RN [29]
RP VARIANT LQT2 ARG-593.
RX PubMed=8635257; DOI=10.1161/01.cir.93.10.1791;
RA Benson D.W., MacRae C.A., Vesely M.R., Walsh E.P., Seidman J.G.,
RA Seidman C.E., Satler C.A.;
RT "Missense mutation in the pore region of HERG causes familial long QT
RT syndrome.";
RL Circulation 93:1791-1795(1996).
RN [30]
RP VARIANT LQT2 THR-561.
RX PubMed=8877771; DOI=10.1006/jmcc.1996.0151;
RA Dausse E., Berthet M., Denjoy I., Andre-Fouet X., Cruaud C., Bennaceur M.,
RA Faure S., Coumel P., Schwartz K., Guicheney P.;
RT "A mutation in HERG associated with notched T waves in long QT syndrome.";
RL J. Mol. Cell. Cardiol. 28:1609-1615(1996).
RN [31]
RP VARIANTS LQT2 ILE-474; HIS-611; VAL-614 AND LEU-630.
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 [32]
RP VARIANTS LQT2 CYS-572; ASP-588; VAL-614 AND ALA-630.
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 [33]
RP VARIANTS LQT2 LEU-612; VAL-614; ASP-629; SER-629 AND SER-633.
RX PubMed=9544837; DOI=10.1007/s004390050690;
RA Satler C.A., Vesely M.R., Duggal P., Ginsburg G.S., Beggs A.H.;
RT "Multiple different missense mutations in the pore region of HERG in
RT patients with long QT syndrome.";
RL Hum. Genet. 102:265-272(1998).
RN [34]
RP VARIANT LQT2 SER-601.
RX PubMed=9452080; DOI=10.1002/humu.1380110159;
RA Akimoto K., Furutani M., Imamura S., Furutani Y., Kasanuki H., Takao A.,
RA Momma K., Matsuoka R.;
RT "Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome
RT family.";
RL Hum. Mutat. Suppl. 1:S184-S186(1998).
RN [35]
RP VARIANT LQT2 LEU-818.
RX PubMed=10086971; DOI=10.1161/01.cir.99.11.1464;
RA Berthet M., Denjoy I., Donger C., Demay L., Hammoude H., Klug D.,
RA Schulze-Bahr E., Richard P., Funke H., Schwartz K., Coumel P., Hainque B.,
RA Guicheney P.;
RT "C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated
RT mutation in cardiac event occurrence.";
RL Circulation 99:1464-1470(1999).
RN [36]
RP VARIANTS LQT2 PRO-558; CYS-582; SER-604; MET-613 AND LEU-640.
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 [37]
RP VARIANTS LQT2 LEU-29; THR-33; ARG-53; GLN-56; GLY-66; ARG-70; PRO-78 AND
RP ARG-86.
RX PubMed=10187793; DOI=10.1074/jbc.274.15.10113;
RA Chen J., Zou A., Splawski I., Keating M.T., Sanguinetti M.C.;
RT "Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of
RT HERG potassium channels accelerate channel deactivation.";
RL J. Biol. Chem. 274:10113-10118(1999).
RN [38]
RP VARIANT LQT2 LYS-629.
RX PubMed=10517660; DOI=10.1111/j.1540-8167.1999.tb00304.x;
RA Yoshida H., Horie M., Otani H., Takano M., Tsuji K., Kubota T.,
RA Fukunami M., Sasayama S.;
RT "Characterization of a novel missense mutation in the pore of HERG in a
RT patient with long QT syndrome.";
RL J. Cardiovasc. Electrophysiol. 10:1262-1270(1999).
RN [39]
RP VARIANT LQT2 ARG-572.
RX PubMed=10735633; DOI=10.1034/j.1399-0004.2000.570206.x;
RA Larsen L.A., Svendsen I.H., Jensen A.M., Kanters J.K., Andersen P.S.,
RA Moeller M., Soerensen S.A., Sandoee E., Jacobsen J.R., Vuust J.,
RA Christiansen M.;
RT "Long QT syndrome with a high mortality rate caused by a novel G572R
RT missense mutation in KCNH2.";
RL Clin. Genet. 57:125-130(2000).
RN [40]
RP VARIANTS LQT2, AND REVIEW ON VARIANTS.
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 [41]
RP VARIANTS LQT2 TRP-176; LEU-451; HIS-569; SER-584; SER-601 AND MET-613, AND
RP VARIANT THR-897.
RX PubMed=10862094;
RX DOI=10.1002/1098-1004(200006)15:6<580::aid-humu16>3.0.co;2-0;
RA Laitinen P., Fodstad H., Piippo K., Swan H., Toivonen L., Viitasalo M.,
RA Kaprio J., Kontula K.;
RT "Survey of the coding region of the HERG gene in long QT syndrome reveals
RT six novel mutations and an amino acid polymorphism with possible phenotypic
RT effects.";
RL Hum. Mutat. 15:580-581(2000).
RN [42]
RP CHARACTERIZATION OF VARIANT LQT2 VAL-561.
RX PubMed=10753933; DOI=10.1074/jbc.275.15.11241;
RA Kagan A., Yu Z., Fishman G.I., McDonald T.V.;
RT "The dominant negative LQT2 mutation A561V reduces wild-type HERG
RT expression.";
RL J. Biol. Chem. 275:11241-11248(2000).
RN [43]
RP VARIANT LQT2 THR-490.
RX PubMed=11170080;
RX DOI=10.1002/1096-8628(20010201)98:4<348::aid-ajmg1109>3.0.co;2-a;
RA Yoshida H., Horie M., Otani H., Kawashima T., Onishi Y., Sasayama S.;
RT "Bradycardia-induced long QT syndrome caused by a de novo missense mutation
RT in the S2-S3 inner loop of HERG.";
RL Am. J. Med. Genet. 98:348-352(2001).
RN [44]
RP VARIANT LQT2 LYS-637.
RX PubMed=12062363; DOI=10.1016/s0008-6363(02)00240-7;
RA Hayashi K., Shimizu M., Ino H., Yamaguchi M., Mabuchi H., Hoshi N.,
RA Higashida H.;
RT "Characterization of a novel missense mutation E637K in the pore-S6 loop of
RT HERG in a patient with long QT syndrome.";
RL Cardiovasc. Res. 54:67-76(2002).
RN [45]
RP VARIANTS TRP-784 AND THR-897, AND CHARACTERIZATION OF VARIANT TRP-784.
RX PubMed=11997281; DOI=10.1161/01.cir.0000014448.19052.4c;
RA Yang P., Kanki H., Drolet B., Yang T., Wei J., Viswanathan P.C.,
RA Hohnloser S.H., Shimizu W., Schwartz P.J., Stanton M., Murray K.T.,
RA Norris K., George A.L. Jr., Roden D.M.;
RT "Allelic variants in long-QT disease genes in patients with drug-associated
RT torsades de pointes.";
RL Circulation 105:1943-1948(2002).
RN [46]
RP VARIANTS LQT2 PRO-413; ASP-444 AND HIS-559.
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 [47]
RP VARIANT LQT2 PRO-65.
RX PubMed=12354768; DOI=10.1074/jbc.m206569200;
RA Paulussen A., Raes A., Matthijs G., Snyders D.J., Cohen N., Aerssens J.;
RT "A novel mutation (T65P) in the PAS domain of the human potassium channel
RT HERG results in the long QT syndrome by trafficking deficiency.";
RL J. Biol. Chem. 277:48610-48616(2002).
RN [48]
RP VARIANT LQT2 GLN-752.
RX PubMed=12621127; DOI=10.1203/01.pdr.0000059750.17002.b6;
RA Johnson W.H. Jr., Yang P., Yang T., Lau Y.R., Mostella B.A., Wolff D.J.,
RA Roden D.M., Benson D.W.;
RT "Clinical, genetic, and biophysical characterization of a homozygous HERG
RT mutation causing severe neonatal long QT syndrome.";
RL Pediatr. Res. 53:744-748(2003).
RN [49]
RP VARIANT SQT1 LYS-588.
RX PubMed=14676148; DOI=10.1161/01.cir.0000109482.92774.3a;
RA Brugada R., Hong K., Dumaine R., Cordeiro J., Gaita F., Borggrefe M.,
RA Menendez T.M., Brugada J., Pollevick G.D., Wolpert C., Burashnikov E.,
RA Matsuo K., Wu Y.S., Guerchicoff A., Bianchi F., Giustetto C., Schimpf R.,
RA Brugada P., Antzelevitch C.;
RT "Sudden death associated with short-QT syndrome linked to mutations in
RT HERG.";
RL Circulation 109:30-35(2004).
RN [50]
RP VARIANT LQT2 ILE-861.
RX PubMed=15051636; DOI=10.1161/01.cir.0000125524.34234.13;
RA Westenskow P., Splawski I., Timothy K.W., Keating M.T., Sanguinetti M.C.;
RT "Compound mutations: a common cause of severe long-QT syndrome.";
RL Circulation 109:1834-1841(2004).
RN [51]
RP VARIANTS LQT2 ILE-26; LEU-29; SER-31; ARG-53; LEU-55; PRO-65; ARG-70;
RP PRO-78; VAL-85; GLN-100; SER-238; TRP-306; LEU-320; CYS-328; CYS-420;
RP MET-421; THR-422; SER-427; TYR-456; TYR-475 DEL; CYS-534; SER-552; THR-561;
RP VAL-561; PRO-562; LEU-571; SER-572; CYS-582; SER-584; ASP-588; ARG-596;
RP SER-604; MET-613; VAL-614; PHE-622; ILE-623; SER-628; VAL-628; ALA-630;
RP SER-633; ILE-635; VAL-640; PHE-641; 671-ALA--THR-675 DEL; LEU-721; TYR-774;
RP TRP-784; ASP-788; CYS-805; ARG-820; MET-822; GLY-837; HIS-887; VAL-913;
RP ARG-925; ILE-983; ILE-996 AND ASP-1036.
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 [52]
RP VARIANTS LQT2 CYS-43; TYR-49; ALA-58; ASP-58; GLY-58; LEU-68; ARG-71;
RP MET-74; SER-251; SER-410; HIS-426; HIS-427; LEU-428; TYR-460; HIS-501;
RP LEU-534; SER-566; ARG-568; VAL-571; ASP-572; LEU-582; HIS-609; PHE-615;
RP ARG-621; ALA-626; ASP-637; PHE-644; CYS-656; LEU-660; PRO-696; TRP-800;
RP PRO-818; HIS-861; LEU-968 AND TYR-1153.
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 [53]
RP VARIANT SQT1 LYS-588.
RX PubMed=15828882; DOI=10.1046/j.1540-8167.2005.40621.x;
RA Hong K., Bjerregaard P., Gussak I., Brugada R.;
RT "Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.";
RL J. Cardiovasc. Electrophysiol. 16:394-396(2005).
RN [54]
RP VARIANTS LQT2 GLY-100; HIS-427; ASN-525; PRO-528; CYS-696 AND CYS-948.
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 [55]
RP VARIANTS LQT2 ALA-16; GLY-20; LEU-29; THR-30; THR-32; PHE-41; TYR-45;
RP ASP-53; HIS-54; PRO-57; TRP-64; ARG-70; ASN-70; 72-PRO--ALA-80 DELINS
RP ARG-PRO-VAL; GLN-72; LEU-72; ARG-74; MET-74; PRO-74; VAL-85; PRO-86;
RP GLY-94; GLN-100; TRP-100; ALA-102; TYR-106; ARG-108; SER-114; CYS-125;
RP LEU-141; ALA-149; HIS-164; VAL-218; GLY-242; ASN-259; ASP-277; THR-291;
RP LEU-301; CYS-312; SER-314; ASN-323; CYS-328; ARG-402; MET-421; CYS-427;
RP LEU-431; LEU-440; LEU-451; TYR-466; ASN-473; CYS-475; ILE-476; THR-490;
RP CYS-493; SER-493; ASN-501; TRP-531; CYS-534; LEU-534; SER-552; GLU-558;
RP THR-561; VAL-561; ARG-562; THR-565; ASP-572; SER-572; VAL-572; CYS-582;
RP ARG-584; SER-584; CYS-585; LYS-593; ASP-594; HIS-596; LEU-596; CYS-597;
RP ARG-599; CYS-601; SER-601; SER-604; LEU-605; SER-605; GLY-609; MET-613;
RP VAL-614; CYS-616; ASP-626; SER-628; ILE-629; SER-629; ILE-634; ASP-635;
RP LYS-635; ASP-637; ASN-638; LYS-638 DEL; LEU-644; PHE-644; ILE-645; SER-648;
RP ARG-657; LEU-660; THR-662; PRO-678; TYR-687; PRO-693; VAL-711; PHE-728;
RP VAL-749; ASN-757; TYR-767; ALA-770; TYR-774; LYS-788; 791-ARG--LEU-799 DEL;
RP TRP-791; GLU-806; MET-822; TRP-823; TYR-837; SER-846; CYS-885; CYS-894;
RP LEU-894; ARG-903; LEU-906; VAL-913; GLN-920; TRP-920; GLN-922; ALA-924;
RP GLU-924; ASN-937; GLN-1005; HIS-1007; TRP-1033; MET-1038; PRO-1049;
RP VAL-1066; CYS-1078; LEU-1093 AND VAL-1115.
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 [56]
RP VARIANT LQT2 PRO-744, AND CHARACTERIZATION OF VARIANT LQT2 PRO-744.
RX PubMed=22314138; DOI=10.1016/j.bbrc.2012.01.118;
RA Aidery P., Kisselbach J., Gaspar H., Baldea I., Schweizer P.A., Becker R.,
RA Katus H.A., Thomas D.;
RT "Identification and functional characterization of the novel human ether-a-
RT go-go-related gene (hERG) R744P mutant associated with hereditary long QT
RT syndrome 2.";
RL Biochem. Biophys. Res. Commun. 418:830-835(2012).
CC -!- FUNCTION: Pore-forming (alpha) subunit of voltage-gated inwardly
CC rectifying potassium channel. Channel properties are modulated by cAMP
CC and subunit assembly. Mediates the rapidly activating component of the
CC delayed rectifying potassium current in heart (IKr) (PubMed:18559421,
CC PubMed:26363003, PubMed:27916661). {ECO:0000269|PubMed:18559421,
CC ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661}.
CC -!- FUNCTION: [Isoform A-USO]: Has no channel activity by itself, but
CC modulates channel characteristics by forming heterotetramers with other
CC isoforms which are retained intracellularly and undergo ubiquitin-
CC dependent degradation. {ECO:0000269|PubMed:18559421}.
CC -!- FUNCTION: [Isoform B-USO]: Has no channel activity by itself, but
CC modulates channel characteristics by forming heterotetramers with other
CC isoforms which are retained intracellularly and undergo ubiquitin-
CC dependent degradation. {ECO:0000269|PubMed:18559421}.
CC -!- SUBUNIT: The potassium channel is probably composed of a homo- or
CC heterotetrameric complex of pore-forming alpha subunits that can
CC associate with modulating beta subunits (PubMed:27916661). Interacts
CC with DNAJB12 and DNAJB14; chaperones DNAJB12 and DNAJB14 promote
CC tetramerization (PubMed:27916661). Heteromultimer with KCNH6/ERG2 and
CC KCNH7/ERG3 (By similarity). Interacts with ALG10B (By similarity).
CC Heteromultimer with KCNE1 and KCNE2 (PubMed:9230439, PubMed:10219239).
CC Interacts with CANX (PubMed:16361248). The core-glycosylated, but not
CC the fully glycosylated form interacts with RNF207 (PubMed:25281747).
CC Interacts with NDFIP1 and NDFIP2 (PubMed:26363003).
CC {ECO:0000250|UniProtKB:O08962, ECO:0000269|PubMed:10219239,
CC ECO:0000269|PubMed:16361248, ECO:0000269|PubMed:25281747,
CC ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661,
CC ECO:0000269|PubMed:9230439}.
CC -!- INTERACTION:
CC Q12809; Q03135: CAV1; NbExp=5; IntAct=EBI-720643, EBI-603614;
CC Q12809; Q12809: KCNH2; NbExp=6; IntAct=EBI-720643, EBI-720643;
CC Q12809-2; Q9BZ67: FRMD8; NbExp=3; IntAct=EBI-12966028, EBI-5773072;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18559421,
CC ECO:0000269|PubMed:19412172, ECO:0000269|PubMed:26363003}; Multi-pass
CC membrane protein {ECO:0000269|PubMed:18559421,
CC ECO:0000269|PubMed:19412172}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Comment=Experimental confirmation may be lacking for some isoforms.;
CC Name=A;
CC IsoId=Q12809-1; Sequence=Displayed;
CC Name=B;
CC IsoId=Q12809-2; Sequence=VSP_000965;
CC Name=4;
CC IsoId=Q12809-4; Sequence=VSP_000966;
CC Name=A-USO;
CC IsoId=Q12809-5; Sequence=VSP_047880, VSP_047881;
CC Name=B-USO;
CC IsoId=Q12809-6; Sequence=VSP_047878, VSP_047879, VSP_047880,
CC VSP_047881;
CC Name=3.1;
CC IsoId=Q12809-7; Sequence=VSP_047877;
CC -!- TISSUE SPECIFICITY: Highly expressed in heart and brain. Isoforms USO
CC are frequently overexpressed in cancer cells.
CC {ECO:0000269|PubMed:18559421}.
CC -!- INDUCTION: Up-regulated by RNF207 (at protein level).
CC {ECO:0000269|PubMed:25281747}.
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 -!- PTM: Phosphorylated on serine and threonine residues. Phosphorylation
CC by PKA inhibits ion conduction. {ECO:0000269|PubMed:10837251}.
CC -!- DISEASE: Long QT syndrome 2 (LQT2) [MIM:613688]: 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. Deafness is often
CC associated with long QT syndrome type 2. {ECO:0000269|PubMed:10086971,
CC ECO:0000269|PubMed:10187793, ECO:0000269|PubMed:10220144,
CC ECO:0000269|PubMed:10517660, ECO:0000269|PubMed:10735633,
CC ECO:0000269|PubMed:10753933, ECO:0000269|PubMed:10862094,
CC ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:11170080,
CC ECO:0000269|PubMed:12062363, ECO:0000269|PubMed:12354768,
CC ECO:0000269|PubMed:12442276, ECO:0000269|PubMed:12621127,
CC ECO:0000269|PubMed:15051636, ECO:0000269|PubMed:15840476,
CC ECO:0000269|PubMed:16361248, ECO:0000269|PubMed:16414944,
CC ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085,
CC ECO:0000269|PubMed:22314138, ECO:0000269|PubMed:27916661,
CC ECO:0000269|PubMed:7889573, ECO:0000269|PubMed:8635257,
CC ECO:0000269|PubMed:8877771, ECO:0000269|PubMed:8914737,
CC ECO:0000269|PubMed:9024139, ECO:0000269|PubMed:9452080,
CC ECO:0000269|PubMed:9544837, ECO:0000269|PubMed:9600240,
CC ECO:0000269|PubMed:9693036}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Short QT syndrome 1 (SQT1) [MIM:609620]: 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:14676148, ECO:0000269|PubMed:15828882}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- MISCELLANEOUS: [Isoform A-USO]: Twice more abundant than isoform 1 in
CC heart. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3.1]: Primate-specific. Lacks a domain that is
CC crucial for slow channel deactivation. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the potassium channel family. H (Eag) (TC
CC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA09232.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Wikipedia; Note=Ether-a-go-go potassium channels
CC entry;
CC URL="https://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels";
CC ---------------------------------------------------------------------------
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DR EMBL; U04270; AAA62473.1; -; mRNA.
DR EMBL; AB009071; BAA37096.1; -; Genomic_DNA.
DR EMBL; AB044806; BAB19682.1; -; mRNA.
DR EMBL; AF363636; AAL37559.1; -; mRNA.
DR EMBL; AJ512214; CAD54447.1; -; mRNA.
DR EMBL; AJ609614; CAE82156.1; -; mRNA.
DR EMBL; FJ938021; ACR24650.1; -; mRNA.
DR EMBL; DQ784808; ABQ01243.1; -; Genomic_DNA.
DR EMBL; AC006343; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471173; EAW54072.1; -; Genomic_DNA.
DR EMBL; AJ010538; CAA09232.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AJ010539; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010540; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010541; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010542; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010543; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010544; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010545; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010546; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010547; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010548; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010549; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010550; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; AJ010551; CAA09232.1; JOINED; Genomic_DNA.
DR EMBL; CH471173; EAW54075.1; -; Genomic_DNA.
DR EMBL; BC001914; AAH01914.2; -; mRNA.
DR EMBL; BC004311; AAH04311.2; -; mRNA.
DR EMBL; AF052728; AAC69709.1; -; mRNA.
DR CCDS; CCDS5910.1; -. [Q12809-1]
DR CCDS; CCDS5911.1; -. [Q12809-2]
DR PIR; I38465; I38465.
DR RefSeq; NP_000229.1; NM_000238.3. [Q12809-1]
DR RefSeq; NP_001191727.1; NM_001204798.1. [Q12809-6]
DR RefSeq; NP_742053.1; NM_172056.2. [Q12809-5]
DR RefSeq; NP_742054.1; NM_172057.2. [Q12809-2]
DR PDB; 1BYW; X-ray; 2.60 A; A=26-135.
DR PDB; 1UJL; NMR; -; A=570-611.
DR PDB; 2L0W; NMR; -; A=1-135.
DR PDB; 2L1M; NMR; -; A=1-135.
DR PDB; 2L4R; NMR; -; A=1-135.
DR PDB; 2LE7; NMR; -; A=532-551.
DR PDB; 2N7G; NMR; -; A=734-864.
DR PDB; 4HP9; X-ray; 2.12 A; A=10-135.
DR PDB; 4HQA; X-ray; 1.96 A; A=1-135.
DR PDB; 5VA1; EM; 3.70 A; A=1-1159.
DR PDB; 5VA2; EM; 3.80 A; A=1-1159.
DR PDB; 5VA3; EM; 4.00 A; A=1-1159.
DR PDB; 6SYG; X-ray; 1.50 A; A=734-864.
DR PDBsum; 1BYW; -.
DR PDBsum; 1UJL; -.
DR PDBsum; 2L0W; -.
DR PDBsum; 2L1M; -.
DR PDBsum; 2L4R; -.
DR PDBsum; 2LE7; -.
DR PDBsum; 2N7G; -.
DR PDBsum; 4HP9; -.
DR PDBsum; 4HQA; -.
DR PDBsum; 5VA1; -.
DR PDBsum; 5VA2; -.
DR PDBsum; 5VA3; -.
DR PDBsum; 6SYG; -.
DR AlphaFoldDB; Q12809; -.
DR BMRB; Q12809; -.
DR SMR; Q12809; -.
DR BioGRID; 109959; 52.
DR ComplexPortal; CPX-3072; Voltage-gated potassium channel complex variant 1.
DR ComplexPortal; CPX-3073; Voltage-gated potassium channel complex variant 2.
DR CORUM; Q12809; -.
DR DIP; DIP-48929N; -.
DR IntAct; Q12809; 9.
DR MINT; Q12809; -.
DR STRING; 9606.ENSP00000262186; -.
DR BindingDB; Q12809; -.
DR ChEMBL; CHEMBL240; -.
DR DrugBank; DB01118; Amiodarone.
DR DrugBank; DB00321; Amitriptyline.
DR DrugBank; DB00276; Amsacrine.
DR DrugBank; DB00637; Astemizole.
DR DrugBank; DB04957; Azimilide.
DR DrugBank; DB01244; Bepridil.
DR DrugBank; DB12364; Betrixaban.
DR DrugBank; DB01136; Carvedilol.
DR DrugBank; DB11386; Chlorobutanol.
DR DrugBank; DB00477; Chlorpromazine.
DR DrugBank; DB00537; Ciprofloxacin.
DR DrugBank; DB00604; Cisapride.
DR DrugBank; DB01211; Clarithromycin.
DR DrugBank; DB00280; Disopyramide.
DR DrugBank; DB00204; Dofetilide.
DR DrugBank; DB00590; Doxazosin.
DR DrugBank; DB01142; Doxepin.
DR DrugBank; DB04855; Dronedarone.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB00199; Erythromycin.
DR DrugBank; DB01195; Flecainide.
DR DrugBank; DB00472; Fluoxetine.
DR DrugBank; DB00176; Fluvoxamine.
DR DrugBank; DB01218; Halofantrine.
DR DrugBank; DB00557; Hydroxyzine.
DR DrugBank; DB00308; Ibutilide.
DR DrugBank; DB00458; Imipramine.
DR DrugBank; DB11633; Isavuconazole.
DR DrugBank; DB01026; Ketoconazole.
DR DrugBank; DB00455; Loratadine.
DR DrugBank; DB01110; Miconazole.
DR DrugBank; DB01149; Nefazodone.
DR DrugBank; DB11186; Pentoxyverine.
DR DrugBank; DB01074; Perhexiline.
DR DrugBank; DB00252; Phenytoin.
DR DrugBank; DB01100; Pimozide.
DR DrugBank; DB11642; Pitolisant.
DR DrugBank; DB11090; Potassium nitrate.
DR DrugBank; DB00457; Prazosin.
DR DrugBank; DB01035; Procainamide.
DR DrugBank; DB01069; Promethazine.
DR DrugBank; DB01182; Propafenone.
DR DrugBank; DB00908; Quinidine.
DR DrugBank; DB06144; Sertindole.
DR DrugBank; DB06207; Silodosin.
DR DrugBank; DB00489; Sotalol.
DR DrugBank; DB00675; Tamoxifen.
DR DrugBank; DB06457; Tecastemizole.
DR DrugBank; DB01162; Terazosin.
DR DrugBank; DB00342; Terfenadine.
DR DrugBank; DB00679; Thioridazine.
DR DrugBank; DB00661; Verapamil.
DR DrugBank; DB06217; Vernakalant.
DR DrugCentral; Q12809; -.
DR GuidetoPHARMACOLOGY; 572; -.
DR TCDB; 1.A.1.20.1; the voltage-gated ion channel (vic) superfamily.
DR GlyGen; Q12809; 1 site.
DR iPTMnet; Q12809; -.
DR PhosphoSitePlus; Q12809; -.
DR BioMuta; KCNH2; -.
DR DMDM; 7531135; -.
DR jPOST; Q12809; -.
DR MassIVE; Q12809; -.
DR PaxDb; Q12809; -.
DR PeptideAtlas; Q12809; -.
DR PRIDE; Q12809; -.
DR ProteomicsDB; 58963; -. [Q12809-1]
DR ProteomicsDB; 58964; -. [Q12809-2]
DR ProteomicsDB; 58965; -. [Q12809-4]
DR ProteomicsDB; 7598; -.
DR Antibodypedia; 32919; 363 antibodies from 33 providers.
DR DNASU; 3757; -.
DR Ensembl; ENST00000262186.10; ENSP00000262186.5; ENSG00000055118.17. [Q12809-1]
DR Ensembl; ENST00000330883.9; ENSP00000328531.4; ENSG00000055118.17. [Q12809-2]
DR GeneID; 3757; -.
DR KEGG; hsa:3757; -.
DR MANE-Select; ENST00000262186.10; ENSP00000262186.5; NM_000238.4; NP_000229.1.
DR UCSC; uc003wib.4; human. [Q12809-1]
DR CTD; 3757; -.
DR DisGeNET; 3757; -.
DR GeneCards; KCNH2; -.
DR GeneReviews; KCNH2; -.
DR HGNC; HGNC:6251; KCNH2.
DR HPA; ENSG00000055118; Tissue enhanced (bone marrow, pituitary gland).
DR MalaCards; KCNH2; -.
DR MIM; 152427; gene.
DR MIM; 609620; phenotype.
DR MIM; 613688; phenotype.
DR neXtProt; NX_Q12809; -.
DR OpenTargets; ENSG00000055118; -.
DR Orphanet; 51083; Familial short QT syndrome.
DR Orphanet; 101016; Romano-Ward syndrome.
DR PharmGKB; PA212; -.
DR VEuPathDB; HostDB:ENSG00000055118; -.
DR eggNOG; KOG0498; Eukaryota.
DR GeneTree; ENSGT00940000159846; -.
DR HOGENOM; CLU_005746_2_4_1; -.
DR InParanoid; Q12809; -.
DR OMA; NHRGPST; -.
DR PhylomeDB; Q12809; -.
DR TreeFam; TF313130; -.
DR PathwayCommons; Q12809; -.
DR Reactome; R-HSA-1296072; Voltage gated Potassium channels.
DR Reactome; R-HSA-5576890; Phase 3 - rapid repolarisation.
DR SignaLink; Q12809; -.
DR SIGNOR; Q12809; -.
DR BioGRID-ORCS; 3757; 18 hits in 1088 CRISPR screens.
DR ChiTaRS; KCNH2; human.
DR EvolutionaryTrace; Q12809; -.
DR GeneWiki; HERG; -.
DR GenomeRNAi; 3757; -.
DR Pharos; Q12809; Tclin.
DR PRO; PR:Q12809; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q12809; protein.
DR Bgee; ENSG00000055118; Expressed in apex of heart and 147 other tissues.
DR ExpressionAtlas; Q12809; baseline and differential.
DR Genevisible; Q12809; HS.
DR GO; GO:0009986; C:cell surface; IDA:BHF-UCL.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:1902937; C:inward rectifier potassium channel complex; IMP:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IMP:BHF-UCL.
DR GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
DR GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:BHF-UCL.
DR GO; GO:0055131; F:C3HC4-type RING finger domain binding; IPI:BHF-UCL.
DR GO; GO:0005251; F:delayed rectifier potassium channel activity; IDA:BHF-UCL.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0005242; F:inward rectifier potassium channel activity; IDA:BHF-UCL.
DR GO; GO:0042803; F:protein homodimerization activity; IPI:BHF-UCL.
DR GO; GO:0097110; F:scaffold protein binding; IPI:BHF-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:ARUK-UCL.
DR GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:BHF-UCL.
DR GO; GO:0005249; F:voltage-gated potassium channel activity; IDA:UniProtKB.
DR GO; GO:0086008; F:voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; IC: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:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0071466; P:cellular response to xenobiotic stimulus; IDA:BHF-UCL.
DR GO; GO:0086010; P:membrane depolarization during action potential; IDA:BHF-UCL.
DR GO; GO:0086009; P:membrane repolarization; IMP:UniProtKB.
DR GO; GO:0086011; P:membrane repolarization during action potential; IDA: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:1903765; P:negative regulation of potassium ion export across plasma membrane; IDA:BHF-UCL.
DR GO; GO:1901380; P:negative regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:1901381; P:positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IMP:ARUK-UCL.
DR GO; GO:0097623; P:potassium ion export across plasma membrane; IDA:BHF-UCL.
DR GO; GO:0055075; P:potassium ion homeostasis; IDA:BHF-UCL.
DR GO; GO:1990573; P:potassium ion import across plasma membrane; IDA:BHF-UCL.
DR GO; GO:0071805; P:potassium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
DR GO; GO:0003064; P:regulation of heart rate by hormone; TAS:BHF-UCL.
DR GO; GO:0042391; P:regulation of membrane potential; IDA:BHF-UCL.
DR GO; GO:0060306; P:regulation of membrane repolarization; IDA:BHF-UCL.
DR GO; GO:1901379; P:regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
DR GO; GO:0086005; P:ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
DR CDD; cd00038; CAP_ED; 1.
DR CDD; cd00130; PAS; 1.
DR Gene3D; 2.60.120.10; -; 1.
DR InterPro; IPR018490; cNMP-bd-like.
DR InterPro; IPR000595; cNMP-bd_dom.
DR InterPro; IPR005821; Ion_trans_dom.
DR InterPro; IPR003938; K_chnl_volt-dep_EAG/ELK/ERG.
DR InterPro; IPR003967; K_chnl_volt-dep_ERG.
DR InterPro; IPR001610; PAC.
DR InterPro; IPR000014; PAS.
DR InterPro; IPR000700; PAS-assoc_C.
DR InterPro; IPR035965; PAS-like_dom_sf.
DR InterPro; IPR014710; RmlC-like_jellyroll.
DR Pfam; PF00027; cNMP_binding; 1.
DR Pfam; PF00520; Ion_trans; 1.
DR Pfam; PF13426; PAS_9; 1.
DR PRINTS; PR01463; EAGCHANLFMLY.
DR PRINTS; PR01470; ERGCHANNEL.
DR SMART; SM00100; cNMP; 1.
DR SMART; SM00086; PAC; 1.
DR SUPFAM; SSF51206; SSF51206; 1.
DR SUPFAM; SSF55785; SSF55785; 1.
DR TIGRFAMs; TIGR00229; sensory_box; 1.
DR PROSITE; PS50042; CNMP_BINDING_3; 1.
DR PROSITE; PS50113; PAC; 1.
DR PROSITE; PS50112; PAS; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell membrane; Deafness;
KW Disease variant; Glycoprotein; Ion channel; Ion transport;
KW Long QT syndrome; Membrane; Methylation; Phosphoprotein; Potassium;
KW Potassium channel; Potassium transport; Reference proteome;
KW Short QT syndrome; Transmembrane; Transmembrane helix; Transport;
KW Voltage-gated channel.
FT CHAIN 1..1159
FT /note="Potassium voltage-gated channel subfamily H member
FT 2"
FT /id="PRO_0000053999"
FT TOPO_DOM 1..403
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 404..424
FT /note="Helical; Name=Segment S1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 425..450
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 451..471
FT /note="Helical; Name=Segment S2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 472..495
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 496..516
FT /note="Helical; Name=Segment S3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 517..520
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 521..541
FT /note="Helical; Voltage-sensor; Name=Segment S4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 542..547
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 548..568
FT /note="Helical; Name=Segment S5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 569..611
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT INTRAMEM 612..632
FT /note="Pore-forming; Name=Segment H5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 633..638
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 639..659
FT /note="Helical; Name=Segment S6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 660..1159
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 41..70
FT /note="PAS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00140"
FT DOMAIN 92..144
FT /note="PAC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00141"
FT REGION 231..314
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 870..982
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1015..1038
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1119..1159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 624..629
FT /note="Selectivity filter"
FT /evidence="ECO:0000250"
FT COMPBIAS 254..279
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 930..947
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 742..842
FT /ligand="a nucleoside 3',5'-cyclic phosphate"
FT /ligand_id="ChEBI:CHEBI:58464"
FT MOD_RES 239
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 243
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O35219"
FT MOD_RES 283
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O35219"
FT MOD_RES 284
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O35219"
FT MOD_RES 320
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 351
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O08962"
FT MOD_RES 871
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 874
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O35219"
FT MOD_RES 1014
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:O35219"
FT MOD_RES 1137
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CARBOHYD 598
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:12063277"
FT VAR_SEQ 1..376
FT /note="MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELC
FT GYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVD
FT VVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPAL
FT LALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAE
FT ERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDI
FT EAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDP
FT FLASPTSDREIIAPKIKERTHNVTEKVTQ -> MAAPAGKASRTGALRPRAQKGRVRRA
FT VRISSLVAQE (in isoform B)"
FT /evidence="ECO:0000303|PubMed:12431979,
FT ECO:0000303|PubMed:9351446, ECO:0000303|PubMed:9351462"
FT /id="VSP_000965"
FT VAR_SEQ 1..102
FT /note="MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELC
FT GYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKD -> MSSHS
FT A (in isoform 3.1)"
FT /evidence="ECO:0000303|PubMed:19412172"
FT /id="VSP_047877"
FT VAR_SEQ 1..36
FT /note="MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARV -> MAAPAGKASRTG
FT ALRPRAQKGRVRRAVRISSLVAQE (in isoform B-USO)"
FT /evidence="ECO:0000303|PubMed:18559421"
FT /id="VSP_047878"
FT VAR_SEQ 37..376
FT /note="Missing (in isoform B-USO)"
FT /evidence="ECO:0000303|PubMed:18559421"
FT /id="VSP_047879"
FT VAR_SEQ 139..195
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_000966"
FT VAR_SEQ 801..888
FT /note="KNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHF
FT WSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRK -> MGWGAGTGLEMPSAASRGA
FT SLLNMQSLGLWTWDCLQGHWAPLIHLNSGPPSGAMERSPTWGEAAELWGSHILLPFRIR
FT HKQTLFASLK (in isoform A-USO and isoform B-USO)"
FT /evidence="ECO:0000303|PubMed:11374908,
FT ECO:0000303|PubMed:18559421, ECO:0000303|PubMed:9765245"
FT /id="VSP_047880"
FT VAR_SEQ 889..1159
FT /note="Missing (in isoform A-USO and isoform B-USO)"
FT /evidence="ECO:0000303|PubMed:11374908,
FT ECO:0000303|PubMed:18559421, ECO:0000303|PubMed:9765245"
FT /id="VSP_047881"
FT VARIANT 16
FT /note="D -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199472825)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074765"
FT VARIANT 20
FT /note="R -> G (in LQT2; unknown pathological significance;
FT dbSNP:rs199473486)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074766"
FT VARIANT 26
FT /note="S -> I (in LQT2; dbSNP:rs199472827)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068249"
FT VARIANT 29
FT /note="F -> L (in LQT2; dbSNP:rs199472830)"
FT /evidence="ECO:0000269|PubMed:10187793,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008907"
FT VARIANT 30
FT /note="I -> T (in LQT2; unknown pathological significance;
FT dbSNP:rs199472832)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074767"
FT VARIANT 31
FT /note="I -> S (in LQT2; dbSNP:rs199472833)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068250"
FT VARIANT 32
FT /note="A -> T (in LQT2; unknown pathological significance;
FT dbSNP:rs199472834)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074768"
FT VARIANT 33
FT /note="N -> T (in LQT2; dbSNP:rs199473487)"
FT /evidence="ECO:0000269|PubMed:10187793"
FT /id="VAR_008908"
FT VARIANT 41
FT /note="V -> F (in LQT2; unknown pathological significance;
FT dbSNP:rs199472835)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074769"
FT VARIANT 43
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472836)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074770"
FT VARIANT 45
FT /note="N -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199472839)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074771"
FT VARIANT 47
FT /note="G -> V (in LQT2; dbSNP:rs199473490)"
FT /id="VAR_009909"
FT VARIANT 49
FT /note="C -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199472840)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074772"
FT VARIANT 53
FT /note="G -> D (in LQT2; unknown pathological significance;
FT dbSNP:rs199473491)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074773"
FT VARIANT 53
FT /note="G -> R (in LQT2; dbSNP:rs199472842)"
FT /evidence="ECO:0000269|PubMed:10187793,
FT ECO:0000269|PubMed:15840476"
FT /id="VAR_008909"
FT VARIANT 54
FT /note="Y -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199472843)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074774"
FT VARIANT 55
FT /note="S -> L (in LQT2; dbSNP:rs199472844)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068251"
FT VARIANT 56
FT /note="R -> Q (in LQT2; dbSNP:rs199472845)"
FT /evidence="ECO:0000269|PubMed:10187793"
FT /id="VAR_008910"
FT VARIANT 57
FT /note="A -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199472846)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074775"
FT VARIANT 58
FT /note="E -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199472847)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074776"
FT VARIANT 58
FT /note="E -> D (in LQT2; unknown pathological significance;
FT dbSNP:rs199473492)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074777"
FT VARIANT 58
FT /note="E -> G (in LQT2; unknown pathological significance;
FT dbSNP:rs199472847)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074778"
FT VARIANT 64
FT /note="C -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs199473414)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074779"
FT VARIANT 64
FT /note="C -> Y (in LQT2; decreased protein stability;
FT dbSNP:rs199473415)"
FT /evidence="ECO:0000269|PubMed:27916661"
FT /id="VAR_077953"
FT VARIANT 65
FT /note="T -> P (in LQT2; decreased protein stability;
FT dbSNP:rs121912511)"
FT /evidence="ECO:0000269|PubMed:12354768,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:27916661"
FT /id="VAR_014371"
FT VARIANT 66
FT /note="C -> G (in LQT2; dbSNP:rs199473416)"
FT /evidence="ECO:0000269|PubMed:10187793"
FT /id="VAR_008911"
FT VARIANT 68
FT /note="F -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473417)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074780"
FT VARIANT 70
FT /note="H -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199473418)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074781"
FT VARIANT 70
FT /note="H -> R (in LQT2; dbSNP:rs199473419)"
FT /evidence="ECO:0000269|PubMed:10187793,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008912"
FT VARIANT 71
FT /note="G -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199473420)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074782"
FT VARIANT 72..80
FT /note="PRTQRRAAA -> RPV (in LQT2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074783"
FT VARIANT 72
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473421)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074784"
FT VARIANT 72
FT /note="P -> Q (in LQT2; unknown pathological significance;
FT dbSNP:rs199473421)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009910"
FT VARIANT 74
FT /note="T -> M (in LQT2; dbSNP:rs199473422)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074785"
FT VARIANT 74
FT /note="T -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199473666)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074786"
FT VARIANT 74
FT /note="T -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199473422)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074787"
FT VARIANT 78
FT /note="A -> P (in LQT2; dbSNP:rs199472848)"
FT /evidence="ECO:0000269|PubMed:10187793,
FT ECO:0000269|PubMed:15840476"
FT /id="VAR_008913"
FT VARIANT 85
FT /note="A -> V (in LQT2; dbSNP:rs199473494)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068252"
FT VARIANT 86
FT /note="L -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199472851)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074788"
FT VARIANT 86
FT /note="L -> R (in LQT2; dbSNP:rs199472851)"
FT /evidence="ECO:0000269|PubMed:10187793"
FT /id="VAR_008914"
FT VARIANT 94
FT /note="V -> G (in LQT2; unknown pathological significance;
FT dbSNP:rs199472852)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074789"
FT VARIANT 100
FT /note="R -> G (in LQT2; digenic; the patient also carries
FT mutation N-1819 on SCN5A; dbSNP:rs121912515)"
FT /evidence="ECO:0000269|PubMed:16922724"
FT /id="VAR_036669"
FT VARIANT 100
FT /note="R -> Q (in LQT2; dbSNP:rs199472855)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068253"
FT VARIANT 100
FT /note="R -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs121912515)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074790"
FT VARIANT 102
FT /note="D -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199472857)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074791"
FT VARIANT 106
FT /note="F -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199472858)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074792"
FT VARIANT 108
FT /note="C -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199472859)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074793"
FT VARIANT 114
FT /note="P -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472861)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074794"
FT VARIANT 125
FT /note="F -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199473499)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074795"
FT VARIANT 141
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472864)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074796"
FT VARIANT 149
FT /note="G -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199472865)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074797"
FT VARIANT 164
FT /note="R -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199472866)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074798"
FT VARIANT 176
FT /note="R -> W (in LQT2; dbSNP:rs36210422)"
FT /evidence="ECO:0000269|PubMed:10862094"
FT /id="VAR_008915"
FT VARIANT 181
FT /note="R -> Q (in dbSNP:rs41308954)"
FT /id="VAR_036670"
FT VARIANT 189
FT /note="G -> GGAG"
FT /evidence="ECO:0000269|PubMed:10790218"
FT /id="VAR_014372"
FT VARIANT 218
FT /note="M -> V (in LQT2; unknown pathological significance;
FT dbSNP:rs199472869)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074799"
FT VARIANT 238
FT /note="G -> S (in LQT2; dbSNP:rs199473501)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068254"
FT VARIANT 242
FT /note="R -> G (in LQT2; unknown pathological significance;
FT dbSNP:rs199472872)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074800"
FT VARIANT 251
FT /note="P -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472873)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074801"
FT VARIANT 259
FT /note="D -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199472876)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074802"
FT VARIANT 277
FT /note="A -> D (in LQT2; unknown pathological significance;
FT dbSNP:rs199472878)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074803"
FT VARIANT 291
FT /note="M -> T (in LQT2; unknown pathological significance;
FT dbSNP:rs199472881)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074804"
FT VARIANT 301
FT /note="R -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472883)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074805"
FT VARIANT 306
FT /note="G -> W (in LQT2; dbSNP:rs199472884)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068255"
FT VARIANT 312
FT /note="R -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472885)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009911"
FT VARIANT 314
FT /note="G -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199473504)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074806"
FT VARIANT 320
FT /note="S -> L (in LQT2; dbSNP:rs199472886)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068256"
FT VARIANT 323
FT /note="D -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199472887)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074807"
FT VARIANT 328
FT /note="R -> C (in LQT2; dbSNP:rs199473505)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068257"
FT VARIANT 347
FT /note="P -> S (in LQT2; dbSNP:rs138776684)"
FT /id="VAR_009912"
FT VARIANT 402
FT /note="H -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199473506)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074808"
FT VARIANT 410
FT /note="W -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472892)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074809"
FT VARIANT 413
FT /note="L -> P (in LQT2; dbSNP:rs199472893)"
FT /evidence="ECO:0000269|PubMed:12442276"
FT /id="VAR_074684"
FT VARIANT 420
FT /note="Y -> C (in LQT2; dbSNP:rs199473507)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068258"
FT VARIANT 421
FT /note="T -> M (in LQT2; dbSNP:rs199472894)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068259"
FT VARIANT 422
FT /note="A -> T (in LQT2; dbSNP:rs199472895)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068260"
FT VARIANT 426
FT /note="P -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199472896)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074810"
FT VARIANT 427
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472897)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074811"
FT VARIANT 427
FT /note="Y -> H (in LQT2; dbSNP:rs199472898)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:16922724"
FT /id="VAR_074812"
FT VARIANT 427
FT /note="Y -> S (in LQT2; dbSNP:rs199472897)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068261"
FT VARIANT 428
FT /note="S -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472899)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074813"
FT VARIANT 431
FT /note="F -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472900)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074814"
FT VARIANT 436
FT /note="T -> M (in LQT2; dbSNP:rs199472901)"
FT /id="VAR_008916"
FT VARIANT 440
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473509)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074815"
FT VARIANT 444
FT /note="E -> D (in LQT2; dbSNP:rs9770044)"
FT /evidence="ECO:0000269|PubMed:12442276"
FT /id="VAR_074685"
FT VARIANT 451
FT /note="P -> L (in LQT2; dbSNP:rs199472902)"
FT /evidence="ECO:0000269|PubMed:10862094,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_014373"
FT VARIANT 456
FT /note="D -> Y (in LQT2; dbSNP:rs199473510)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068262"
FT VARIANT 460
FT /note="D -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199472903)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074816"
FT VARIANT 466
FT /note="D -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199473511)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074817"
FT VARIANT 470
FT /note="N -> D (in LQT2; aberrant protein folding increases
FT the association of mutant KCNH2 with CANX and results in
FT defective protein trafficking; dbSNP:rs121912505)"
FT /evidence="ECO:0000269|PubMed:16361248,
FT ECO:0000269|PubMed:7889573"
FT /id="VAR_008578"
FT VARIANT 473
FT /note="T -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199472905)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074818"
FT VARIANT 474
FT /note="T -> I (in LQT2; dbSNP:rs199472906)"
FT /evidence="ECO:0000269|PubMed:9024139"
FT /id="VAR_008917"
FT VARIANT 475
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472907)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074819"
FT VARIANT 475
FT /note="Missing (in LQT2; dbSNP:rs794728437)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068263"
FT VARIANT 476
FT /note="V -> I (in LQT2; unknown pathological significance;
FT dbSNP:rs199472908)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074820"
FT VARIANT 490
FT /note="A -> T (in LQT2; bradycardia-induced;
FT dbSNP:rs28928905)"
FT /evidence="ECO:0000269|PubMed:11170080,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_036671"
FT VARIANT 493
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472911)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074821"
FT VARIANT 493
FT /note="Y -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472911)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074822"
FT VARIANT 500..508
FT /note="Missing (in LQT2)"
FT /id="VAR_009178"
FT VARIANT 501
FT /note="D -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199472912)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074823"
FT VARIANT 501
FT /note="D -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199472912)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074824"
FT VARIANT 525
FT /note="K -> N (in LQT2; located on the same allele as Pro-
FT 528; dbSNP:rs199472913)"
FT /evidence="ECO:0000269|PubMed:16922724"
FT /id="VAR_036672"
FT VARIANT 528
FT /note="R -> P (in LQT2; located on the same allele as Asn-
FT 525; dbSNP:rs199472914)"
FT /evidence="ECO:0000269|PubMed:16922724"
FT /id="VAR_036673"
FT VARIANT 531
FT /note="R -> Q (in LQT2; dbSNP:rs199473515)"
FT /id="VAR_009913"
FT VARIANT 531
FT /note="R -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs199472915)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074825"
FT VARIANT 534
FT /note="R -> C (in LQT2; dbSNP:rs199472916)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9600240"
FT /id="VAR_008579"
FT VARIANT 534
FT /note="R -> L (in LQT2; dbSNP:rs199473516)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074826"
FT VARIANT 552
FT /note="L -> S (in LQT2; dbSNP:rs199472918)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_008918"
FT VARIANT 558
FT /note="A -> E (in LQT2; unknown pathological significance;
FT dbSNP:rs199472919)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074827"
FT VARIANT 558
FT /note="A -> P (in LQT2; dbSNP:rs121912516)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_008919"
FT VARIANT 559
FT /note="L -> H (in LQT2; dbSNP:rs199472920)"
FT /evidence="ECO:0000269|PubMed:12442276"
FT /id="VAR_074686"
FT VARIANT 561
FT /note="A -> T (in LQT2; dbSNP:rs199472921)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:8877771"
FT /id="VAR_014374"
FT VARIANT 561
FT /note="A -> V (in LQT2; the mutation reduces wild-type
FT channel expression; dbSNP:rs121912504)"
FT /evidence="ECO:0000269|PubMed:10753933,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:7889573"
FT /id="VAR_008580"
FT VARIANT 562
FT /note="H -> P (in LQT2; dbSNP:rs199472922)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068264"
FT VARIANT 562
FT /note="H -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199472922)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074828"
FT VARIANT 564
FT /note="L -> P (in LQT2; dbSNP:rs199472924)"
FT /id="VAR_008920"
FT VARIANT 565
FT /note="A -> T (in LQT2; unknown pathological significance;
FT dbSNP:rs199473518)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074829"
FT VARIANT 566
FT /note="C -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472925)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074830"
FT VARIANT 568
FT /note="W -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199472927)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074831"
FT VARIANT 569
FT /note="Y -> H (in LQT2; dbSNP:rs199473520)"
FT /evidence="ECO:0000269|PubMed:10862094"
FT /id="VAR_008921"
FT VARIANT 571
FT /note="I -> L (in LQT2; dbSNP:rs199472928)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068265"
FT VARIANT 571
FT /note="I -> V (in LQT2; unknown pathological significance;
FT dbSNP:rs199472928)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074832"
FT VARIANT 572
FT /note="G -> C (in LQT2; dbSNP:rs9333649)"
FT /evidence="ECO:0000269|PubMed:9693036"
FT /id="VAR_008923"
FT VARIANT 572
FT /note="G -> D (in LQT2; dbSNP:rs199473423)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074833"
FT VARIANT 572
FT /note="G -> R (in LQT2; severe form; dbSNP:rs9333649)"
FT /evidence="ECO:0000269|PubMed:10735633"
FT /id="VAR_008922"
FT VARIANT 572
FT /note="G -> S (in LQT2; dbSNP:rs9333649)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068266"
FT VARIANT 572
FT /note="G -> V (in LQT2; unknown pathological significance;
FT dbSNP:rs199473423)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074834"
FT VARIANT 582
FT /note="R -> C (in LQT2; dbSNP:rs121912508)"
FT /evidence="ECO:0000269|PubMed:10220144,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008581"
FT VARIANT 582
FT /note="R -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473426)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074835"
FT VARIANT 584
FT /note="G -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199473428)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074836"
FT VARIANT 584
FT /note="G -> S (in LQT2; dbSNP:rs199473428)"
FT /evidence="ECO:0000269|PubMed:10862094,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008924"
FT VARIANT 585
FT /note="W -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199473430)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_009914"
FT VARIANT 588
FT /note="N -> D (in LQT2; dbSNP:rs199473431)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:9693036"
FT /id="VAR_008925"
FT VARIANT 588
FT /note="N -> K (in SQT1; dbSNP:rs104894021)"
FT /evidence="ECO:0000269|PubMed:14676148,
FT ECO:0000269|PubMed:15828882"
FT /id="VAR_023840"
FT VARIANT 593
FT /note="I -> K (in LQT2; unknown pathological significance;
FT dbSNP:rs28928904)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074837"
FT VARIANT 593
FT /note="I -> R (in LQT2; dbSNP:rs28928904)"
FT /evidence="ECO:0000269|PubMed:8635257"
FT /id="VAR_008582"
FT VARIANT 593
FT /note="I -> T (in LQT2; dbSNP:rs28928904)"
FT /id="VAR_009915"
FT VARIANT 594
FT /note="G -> D (in LQT2; unknown pathological significance;
FT dbSNP:rs199472931)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074838"
FT VARIANT 596
FT /note="P -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199472933)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074839"
FT VARIANT 596
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472933)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074840"
FT VARIANT 596
FT /note="P -> R (in LQT2; dbSNP:rs199472933)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068267"
FT VARIANT 597
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472934)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074841"
FT VARIANT 599
FT /note="S -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199472935)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074842"
FT VARIANT 601
FT /note="G -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472936)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074843"
FT VARIANT 601
FT /note="G -> S (in LQT2; dbSNP:rs199472936)"
FT /evidence="ECO:0000269|PubMed:10862094,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9452080"
FT /id="VAR_008926"
FT VARIANT 604
FT /note="G -> S (in LQT2; dbSNP:rs199473522)"
FT /evidence="ECO:0000269|PubMed:10220144,
FT ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:19716085"
FT /id="VAR_008927"
FT VARIANT 605
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472938)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074844"
FT VARIANT 605
FT /note="P -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472939)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074845"
FT VARIANT 609
FT /note="D -> G (in LQT2; unknown pathological significance;
FT dbSNP:rs199472940)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074846"
FT VARIANT 609
FT /note="D -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199472941)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074847"
FT VARIANT 609
FT /note="D -> N (in LQT2; dbSNP:rs199472941)"
FT /id="VAR_009916"
FT VARIANT 611
FT /note="Y -> H (in LQT2; dbSNP:rs199472942)"
FT /evidence="ECO:0000269|PubMed:9024139"
FT /id="VAR_008928"
FT VARIANT 612
FT /note="V -> L (in LQT2; dbSNP:rs199472943)"
FT /evidence="ECO:0000269|PubMed:9544837"
FT /id="VAR_008929"
FT VARIANT 613
FT /note="T -> M (in LQT2; dbSNP:rs199473524)"
FT /evidence="ECO:0000269|PubMed:10220144,
FT ECO:0000269|PubMed:10862094, ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_008930"
FT VARIANT 614
FT /note="A -> V (in LQT2; dbSNP:rs199472944)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:9024139,
FT ECO:0000269|PubMed:9544837, ECO:0000269|PubMed:9693036"
FT /id="VAR_008931"
FT VARIANT 615
FT /note="L -> F (in LQT2; unknown pathological significance;
FT dbSNP:rs199472945)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074848"
FT VARIANT 615
FT /note="L -> V (in LQT2; dbSNP:rs199472945)"
FT /id="VAR_014375"
FT VARIANT 616
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472946)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074849"
FT VARIANT 621
FT /note="S -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199472949)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074850"
FT VARIANT 622
FT /note="L -> F (in LQT2; dbSNP:rs199473525)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068268"
FT VARIANT 623
FT /note="T -> I (in LQT2; dbSNP:rs199472950)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068269"
FT VARIANT 626
FT /note="G -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199472952)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074851"
FT VARIANT 626
FT /note="G -> D (in LQT2; unknown pathological significance;
FT dbSNP:rs199472952)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074852"
FT VARIANT 626
FT /note="G -> S (in LQT2; dbSNP:rs199472953)"
FT /id="VAR_014376"
FT VARIANT 627
FT /note="F -> L (in LQT2; dbSNP:rs199473039)"
FT /id="VAR_014377"
FT VARIANT 628
FT /note="G -> S (in LQT2; dbSNP:rs121912507)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:7889573"
FT /id="VAR_008583"
FT VARIANT 628
FT /note="G -> V (in LQT2; dbSNP:rs199472955)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068270"
FT VARIANT 629
FT /note="N -> D (in LQT2; dbSNP:rs199472956)"
FT /evidence="ECO:0000269|PubMed:9544837"
FT /id="VAR_008932"
FT VARIANT 629
FT /note="N -> I (in LQT2; unknown pathological significance;
FT dbSNP:rs199472957)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074853"
FT VARIANT 629
FT /note="N -> K (in LQT2; dbSNP:rs41307295)"
FT /evidence="ECO:0000269|PubMed:10517660"
FT /id="VAR_008933"
FT VARIANT 629
FT /note="N -> S (in LQT2; dbSNP:rs199472957)"
FT /evidence="ECO:0000269|PubMed:19716085,
FT ECO:0000269|PubMed:9544837"
FT /id="VAR_009179"
FT VARIANT 630
FT /note="V -> A (in LQT2; dbSNP:rs199473526)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:9693036"
FT /id="VAR_008935"
FT VARIANT 630
FT /note="V -> L (in LQT2; dbSNP:rs199472958)"
FT /evidence="ECO:0000269|PubMed:9024139"
FT /id="VAR_008934"
FT VARIANT 632
FT /note="P -> S (in LQT2; dbSNP:rs199473527)"
FT /id="VAR_014378"
FT VARIANT 633
FT /note="N -> S (in LQT2; dbSNP:rs199472961)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:9544837"
FT /id="VAR_008936"
FT VARIANT 634
FT /note="T -> I (in LQT2; unknown pathological significance;
FT dbSNP:rs199472962)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074854"
FT VARIANT 635
FT /note="N -> D (in LQT2; unknown pathological significance;
FT dbSNP:rs199472963)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074855"
FT VARIANT 635
FT /note="N -> I (in LQT2; dbSNP:rs199472964)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068271"
FT VARIANT 635
FT /note="N -> K (in LQT2; unknown pathological significance;
FT dbSNP:rs199472965)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074856"
FT VARIANT 637
FT /note="E -> D (in LQT2; dbSNP:rs199472966)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074857"
FT VARIANT 637
FT /note="E -> K (in LQT2; dbSNP:rs199472968)"
FT /evidence="ECO:0000269|PubMed:12062363"
FT /id="VAR_014379"
FT VARIANT 638
FT /note="K -> E (in LQT2; dbSNP:rs199473528)"
FT /id="VAR_014380"
FT VARIANT 638
FT /note="K -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199472969)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074858"
FT VARIANT 638
FT /note="Missing (in LQT2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_014381"
FT VARIANT 640
FT /note="F -> L (in LQT2; dbSNP:rs199472970)"
FT /evidence="ECO:0000269|PubMed:10220144"
FT /id="VAR_008937"
FT VARIANT 640
FT /note="F -> V (in LQT2; dbSNP:rs199473529)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068272"
FT VARIANT 641
FT /note="S -> F (in LQT2; dbSNP:rs199472971)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068273"
FT VARIANT 644
FT /note="V -> F (in LQT2; dbSNP:rs199472972)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074859"
FT VARIANT 644
FT /note="V -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199472972)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074860"
FT VARIANT 645
FT /note="M -> I (in LQT2; unknown pathological significance;
FT dbSNP:rs199472973)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074861"
FT VARIANT 645
FT /note="M -> L (in LQT2; dbSNP:rs199472974)"
FT /id="VAR_014382"
FT VARIANT 648
FT /note="G -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199472975)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074862"
FT VARIANT 656
FT /note="F -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199472977)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074863"
FT VARIANT 657
FT /note="G -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199472978)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074864"
FT VARIANT 660
FT /note="S -> L (in LQT2; dbSNP:rs199472979)"
FT /evidence="ECO:0000269|PubMed:16414944,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_074865"
FT VARIANT 662
FT /note="I -> T (in LQT2; unknown pathological significance;
FT dbSNP:rs199472980)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074866"
FT VARIANT 671..675
FT /note="Missing (in LQT2)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068274"
FT VARIANT 678
FT /note="L -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199472981)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074867"
FT VARIANT 687
FT /note="H -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199472982)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074868"
FT VARIANT 693
FT /note="L -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199472983)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074869"
FT VARIANT 696
FT /note="R -> C (in LQT2; dbSNP:rs199472984)"
FT /evidence="ECO:0000269|PubMed:16922724"
FT /id="VAR_036674"
FT VARIANT 696
FT /note="R -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199473531)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074870"
FT VARIANT 711
FT /note="I -> V (in LQT2; unknown pathological significance;
FT dbSNP:rs199473532)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074871"
FT VARIANT 721
FT /note="P -> L (in LQT2; dbSNP:rs199472986)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068275"
FT VARIANT 728
FT /note="I -> F (in LQT2; unknown pathological significance;
FT dbSNP:rs199473533)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074872"
FT VARIANT 744
FT /note="R -> P (in LQT2; impairs channel function; exhibits
FT reduced activating currents compared to wild-type; cell
FT surface trafficking is not impaired; does not exert
FT dominant-negative effects on wild-type channel; the half-
FT maximal activation voltage is not significantly affected by
FT the mutation)"
FT /evidence="ECO:0000269|PubMed:22314138"
FT /id="VAR_068276"
FT VARIANT 749
FT /note="G -> V (in LQT2; unknown pathological significance;
FT dbSNP:rs199472989)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074873"
FT VARIANT 752
FT /note="R -> Q (in LQT2; dbSNP:rs121912512)"
FT /evidence="ECO:0000269|PubMed:12621127"
FT /id="VAR_036675"
FT VARIANT 752
FT /note="R -> W (in LQT2; dbSNP:rs199472990)"
FT /id="VAR_014383"
FT VARIANT 757
FT /note="K -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199472992)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074874"
FT VARIANT 767
FT /note="D -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199472993)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074875"
FT VARIANT 770
FT /note="V -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199472994)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074876"
FT VARIANT 774
FT /note="D -> Y (in LQT2; dbSNP:rs199472995)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068277"
FT VARIANT 784
FT /note="R -> W (predisposes to LQT2 and torsades de pointes
FT while taking the drug amiodarone; in vitro studies
FT confirmed a significant reduction in potassium currents;
FT the ECG abnormalities reversed on drug withdrawal;
FT dbSNP:rs12720441)"
FT /evidence="ECO:0000269|PubMed:11997281,
FT ECO:0000269|PubMed:15840476"
FT /id="VAR_036676"
FT VARIANT 788
FT /note="E -> D (in LQT2; dbSNP:rs199473535)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068278"
FT VARIANT 788
FT /note="E -> K (in LQT2; unknown pathological significance;
FT dbSNP:rs199472997)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074877"
FT VARIANT 791..799
FT /note="Missing (in LQT2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074878"
FT VARIANT 791
FT /note="R -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs138498207)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074879"
FT VARIANT 800
FT /note="G -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs199472998)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074880"
FT VARIANT 805
FT /note="F -> C (in LQT2; dbSNP:rs199472999)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_014384"
FT VARIANT 805
FT /note="F -> S (in LQT2; dbSNP:rs199472999)"
FT /id="VAR_014385"
FT VARIANT 806
FT /note="G -> E (in LQT2; unknown pathological significance;
FT dbSNP:rs199473000)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074881"
FT VARIANT 818
FT /note="S -> L (in LQT2; dbSNP:rs121912510)"
FT /evidence="ECO:0000269|PubMed:10086971"
FT /id="VAR_008938"
FT VARIANT 818
FT /note="S -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199473537)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074882"
FT VARIANT 820
FT /note="G -> R (in LQT2; dbSNP:rs199473001)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068279"
FT VARIANT 822
FT /note="V -> M (in LQT2; dbSNP:rs121912506)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:8914737"
FT /id="VAR_008584"
FT VARIANT 823
FT /note="R -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs199473538)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_014386"
FT VARIANT 837
FT /note="D -> G (in LQT2; dbSNP:rs199473004)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068280"
FT VARIANT 837
FT /note="D -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199473005)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074883"
FT VARIANT 846
FT /note="P -> S (in LQT2; unknown pathological significance;
FT dbSNP:rs199473006)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074884"
FT VARIANT 861
FT /note="N -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199473007)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074885"
FT VARIANT 861
FT /note="N -> I (in LQT2; dbSNP:rs121912513)"
FT /evidence="ECO:0000269|PubMed:15051636"
FT /id="VAR_014387"
FT VARIANT 885
FT /note="R -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs143512106)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074886"
FT VARIANT 887
FT /note="R -> H (in LQT2; dbSNP:rs199473432)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068281"
FT VARIANT 894
FT /note="R -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199473433)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074887"
FT VARIANT 894
FT /note="R -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473668)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074888"
FT VARIANT 897
FT /note="K -> T (in dbSNP:rs1805123)"
FT /evidence="ECO:0000269|PubMed:10862094,
FT ECO:0000269|PubMed:11997281"
FT /id="VAR_014388"
FT VARIANT 903
FT /note="G -> R (in LQT2; unknown pathological significance;
FT dbSNP:rs199473669)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074889"
FT VARIANT 906
FT /note="S -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473435)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074890"
FT VARIANT 913
FT /note="A -> V (in LQT2; dbSNP:rs77331749)"
FT /evidence="ECO:0000269|PubMed:15840476,
FT ECO:0000269|PubMed:19716085"
FT /id="VAR_068282"
FT VARIANT 917
FT /note="P -> L (in LQT2; dbSNP:rs76420733)"
FT /id="VAR_014389"
FT VARIANT 920
FT /note="R -> Q (in LQT2; unknown pathological significance;
FT dbSNP:rs199473670)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074891"
FT VARIANT 920
FT /note="R -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs199473438)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074892"
FT VARIANT 922
FT /note="R -> Q (in LQT2; unknown pathological significance;
FT dbSNP:rs199473439)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074893"
FT VARIANT 922
FT /note="R -> W (in LQT2; dbSNP:rs199473440)"
FT /id="VAR_014390"
FT VARIANT 924
FT /note="G -> A (in LQT2; unknown pathological significance;
FT dbSNP:rs199473009)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074894"
FT VARIANT 924
FT /note="G -> E (in LQT2; unknown pathological significance;
FT dbSNP:rs199473009)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074895"
FT VARIANT 925
FT /note="G -> R (in LQT2; dbSNP:rs199473010)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068283"
FT VARIANT 937
FT /note="S -> N (in LQT2; unknown pathological significance;
FT dbSNP:rs199473540)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074896"
FT VARIANT 948
FT /note="R -> C (in LQT2; dbSNP:rs121912514)"
FT /evidence="ECO:0000269|PubMed:16922724"
FT /id="VAR_036677"
FT VARIANT 968
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473017)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074897"
FT VARIANT 983
FT /note="T -> I (in LQT2; dbSNP:rs149955375)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068284"
FT VARIANT 996
FT /note="N -> I (in LQT2; dbSNP:rs199473018)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068285"
FT VARIANT 1005
FT /note="R -> Q (in LQT2; unknown pathological significance;
FT dbSNP:rs199473019)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074898"
FT VARIANT 1007
FT /note="R -> H (in LQT2; unknown pathological significance;
FT dbSNP:rs199473542)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074899"
FT VARIANT 1016
FT /note="P -> L (in dbSNP:rs41313074)"
FT /id="VAR_036679"
FT VARIANT 1016
FT /note="P -> S (in dbSNP:rs41307280)"
FT /id="VAR_036678"
FT VARIANT 1020
FT /note="P -> S (in dbSNP:rs41307274)"
FT /id="VAR_036680"
FT VARIANT 1026
FT /note="P -> L (in dbSNP:rs41307271)"
FT /id="VAR_036681"
FT VARIANT 1033
FT /note="R -> W (in LQT2; unknown pathological significance;
FT dbSNP:rs199473021)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074900"
FT VARIANT 1036
FT /note="G -> D (in LQT2; dbSNP:rs199473022)"
FT /evidence="ECO:0000269|PubMed:15840476"
FT /id="VAR_068286"
FT VARIANT 1038
FT /note="V -> M (in LQT2; unknown pathological significance;
FT dbSNP:rs199473544)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074901"
FT VARIANT 1049
FT /note="L -> P (in LQT2; unknown pathological significance;
FT dbSNP:rs199473026)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074902"
FT VARIANT 1055
FT /note="R -> Q (in dbSNP:rs41307270)"
FT /id="VAR_036682"
FT VARIANT 1066
FT /note="L -> V (in LQT2; unknown pathological significance;
FT dbSNP:rs199473027)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074903"
FT VARIANT 1078
FT /note="Y -> C (in LQT2; unknown pathological significance;
FT dbSNP:rs199473029)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074904"
FT VARIANT 1093
FT /note="P -> L (in LQT2; unknown pathological significance;
FT dbSNP:rs199473545)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074905"
FT VARIANT 1115
FT /note="M -> V (in LQT2; dbSNP:rs199473546)"
FT /evidence="ECO:0000269|PubMed:19716085"
FT /id="VAR_074906"
FT VARIANT 1153
FT /note="H -> Y (in LQT2; unknown pathological significance;
FT dbSNP:rs199473035)"
FT /evidence="ECO:0000269|PubMed:16414944"
FT /id="VAR_074907"
FT MUTAGEN 29
FT /note="F->A: Slows down deactivation."
FT /evidence="ECO:0000269|PubMed:9845367"
FT MUTAGEN 43
FT /note="Y->A: Slows down deactivation."
FT /evidence="ECO:0000269|PubMed:9845367"
FT MUTAGEN 283
FT /note="S->A: Abolishes phosphorylation; when associated
FT with A-890; A-895 and A-1137."
FT /evidence="ECO:0000269|PubMed:10837251"
FT MUTAGEN 598
FT /note="N->Q: No effect on cell surface expression, but
FT changes inactivation kinetics; when associated with A-631."
FT /evidence="ECO:0000269|PubMed:12063277"
FT MUTAGEN 629
FT /note="N->Q: Abolishes cell surface expression; has no
FT effect on N-glycosylation."
FT /evidence="ECO:0000269|PubMed:12063277"
FT MUTAGEN 631
FT /note="S->A: No effect on cell surface expression, but
FT changes inactivation kinetics; when associated with Q-598."
FT /evidence="ECO:0000269|PubMed:12063277"
FT MUTAGEN 890
FT /note="S->A: Abolishes phosphorylation; when associated
FT with A-283; A-895 and A-1137."
FT /evidence="ECO:0000269|PubMed:10837251"
FT MUTAGEN 895
FT /note="T->A: Abolishes phosphorylation; when associated
FT with A-283; A-890 and A-1137."
FT /evidence="ECO:0000269|PubMed:10837251"
FT MUTAGEN 1137
FT /note="S->A: Abolishes phosphorylation; when associated
FT with A-283; A-890 and A-895."
FT /evidence="ECO:0000269|PubMed:10837251"
FT HELIX 15..19
FT /evidence="ECO:0007829|PDB:4HP9"
FT TURN 23..26
FT /evidence="ECO:0007829|PDB:2L0W"
FT STRAND 29..33
FT /evidence="ECO:0007829|PDB:4HQA"
FT STRAND 36..38
FT /evidence="ECO:0007829|PDB:1BYW"
FT STRAND 40..44
FT /evidence="ECO:0007829|PDB:4HQA"
FT HELIX 46..52
FT /evidence="ECO:0007829|PDB:4HQA"
FT HELIX 56..59
FT /evidence="ECO:0007829|PDB:4HQA"
FT HELIX 67..69
FT /evidence="ECO:0007829|PDB:4HQA"
FT HELIX 76..87
FT /evidence="ECO:0007829|PDB:4HQA"
FT STRAND 88..90
FT /evidence="ECO:0007829|PDB:4HP9"
FT STRAND 92..99
FT /evidence="ECO:0007829|PDB:4HQA"
FT STRAND 105..116
FT /evidence="ECO:0007829|PDB:4HQA"
FT STRAND 118..120
FT /evidence="ECO:0007829|PDB:4HQA"
FT STRAND 122..134
FT /evidence="ECO:0007829|PDB:4HQA"
FT TURN 538..540
FT /evidence="ECO:0007829|PDB:2LE7"
FT HELIX 542..549
FT /evidence="ECO:0007829|PDB:2LE7"
FT STRAND 577..580
FT /evidence="ECO:0007829|PDB:1UJL"
FT HELIX 586..593
FT /evidence="ECO:0007829|PDB:1UJL"
FT HELIX 605..610
FT /evidence="ECO:0007829|PDB:1UJL"
FT HELIX 735..739
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 743..745
FT /evidence="ECO:0007829|PDB:2N7G"
FT TURN 748..750
FT /evidence="ECO:0007829|PDB:2N7G"
FT HELIX 751..757
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 759..763
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 768..770
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 778..785
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 787..795
FT /evidence="ECO:0007829|PDB:2N7G"
FT TURN 809..811
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 819..824
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 826..834
FT /evidence="ECO:0007829|PDB:2N7G"
FT HELIX 835..844
FT /evidence="ECO:0007829|PDB:2N7G"
FT HELIX 846..855
FT /evidence="ECO:0007829|PDB:2N7G"
FT STRAND 859..861
FT /evidence="ECO:0007829|PDB:2N7G"
SQ SEQUENCE 1159 AA; 126655 MW; D03BD4F657641FBA CRC64;
MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY
FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE
VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS
PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP
SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA
VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG
QLGALTSQPL HRHGSDPGS
