KCJ13_HUMAN
ID KCJ13_HUMAN Reviewed; 360 AA.
AC O60928; A0PGH1; O76023; Q53SA1; Q8N3Y4;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1998, sequence version 1.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=Inward rectifier potassium channel 13;
DE AltName: Full=Inward rectifier K(+) channel Kir7.1;
DE AltName: Full=Potassium channel, inwardly rectifying subfamily J member 13;
GN Name=KCNJ13;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-175.
RC TISSUE=Brain;
RX PubMed=9738472; DOI=10.1016/s0014-5793(98)00972-7;
RA Partiseti M., Collura V., Agnel M., Culouscou J.-M., Graham D.;
RT "Cloning and characterization of a novel human inwardly rectifying
RT potassium channel predominantly expressed in small intestine.";
RL FEBS Lett. 434:171-176(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9620703; DOI=10.1016/s0896-6273(00)80480-8;
RA Krapivinsky G., Medina I., Eng L., Krapivinsky L., Yang Y., Clapham D.E.;
RT "A novel inward rectifier K+ channel with unique pore properties.";
RL Neuron 20:995-1005(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND ALTERNATIVE SPLICING.
RC TISSUE=Eye;
RX PubMed=18035352; DOI=10.1016/j.exer.2007.09.011;
RA Yang D., Swaminathan A., Zhang X., Hughes B.A.;
RT "Expression of Kir7.1 and a novel Kir7.1 splice variant in native human
RT retinal pigment epithelium.";
RL Exp. Eye Res. 86:81-91(2008).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Small intestine;
RA Hirose S., Suzuki Y., Nakamura N.;
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Nakamura N., Matsuki T., Suzuki Y., Sakuta H., Ito T., Hirose S.;
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Doering F., Derst C., Wischmeyer E., Karschin C., Daut J., Karschin A.;
RT "Unique epithelial Kir7.1 subunit defines a new subfamily of inwardly
RT rectifying potassium channels.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [9]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ILE-175;
RP GLN-290 AND CYS-309.
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 [11]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-175.
RX PubMed=9878260; DOI=10.1006/geno.1998.5598;
RA Derst C., Doring F., Preisig-M ueller R., Daut J., Karschin A., Jeck N.,
RA Weber S., Engel H., Grzeschik K.-H.;
RT "Partial gene structure and assignment to chromosome 2q37 of the human
RT inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).";
RL Genomics 54:560-563(1998).
RN [12]
RP PHOSPHORYLATION AT SER-201 AND SER-287.
RX PubMed=18976636; DOI=10.1016/j.bbrc.2008.10.110;
RA Zhang W., Zitron E., Bloehs R., Muller-Krebs S., Scholz E., Zeier M.,
RA Katus H., Karle C., Schwenger V.;
RT "Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and
RT protein Kinase C.";
RL Biochem. Biophys. Res. Commun. 377:981-986(2008).
RN [13]
RP VARIANT SVD TRP-162, AND CHARACTERIZATION OF VARIANT SVD TRP-162.
RX PubMed=18179896; DOI=10.1016/j.ajhg.2007.08.002;
RA Hejtmancik J.F., Jiao X., Li A., Sergeev Y.V., Ding X., Sharma A.K.,
RA Chan C.-C., Medina I., Edwards A.O.;
RT "Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal
RT degeneration.";
RL Am. J. Hum. Genet. 82:174-180(2008).
RN [14]
RP VARIANTS LCA16 ARG-117 AND PRO-241, AND VARIANTS GLN-162 AND ALA-276.
RX PubMed=21763485; DOI=10.1016/j.ajhg.2011.06.002;
RA Sergouniotis P.I., Davidson A.E., Mackay D.S., Li Z., Yang X., Plagnol V.,
RA Moore A.T., Webster A.R.;
RT "Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium
RT channel subunit, cause leber congenital amaurosis.";
RL Am. J. Hum. Genet. 89:183-190(2011).
CC -!- FUNCTION: Inward rectifier potassium channels are characterized by a
CC greater tendency to allow potassium to flow into the cell rather than
CC out of it. Their voltage dependence is regulated by the concentration
CC of extracellular potassium; as external potassium is raised, the
CC voltage range of the channel opening shifts to more positive voltages.
CC The inward rectification is mainly due to the blockage of outward
CC current by internal magnesium. KCNJ13 has a very low single channel
CC conductance, low sensitivity to block by external barium and cesium,
CC and no dependence of its inward rectification properties on the
CC internal blocking particle magnesium.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O60928-1; Sequence=Displayed;
CC Name=2; Synonyms=Kir7.1S;
CC IsoId=O60928-2; Sequence=VSP_042627, VSP_042628;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in small intestine.
CC Expression is also detected in stomach, kidney, and all central nervous
CC system regions tested with the exception of spinal cord.
CC -!- PTM: Phosphorylation at Ser-201 by PKC strongly inhibits ionic
CC currents, while phosphorylation at Ser-287 by PKA increases them.
CC {ECO:0000269|PubMed:18976636}.
CC -!- DISEASE: Snowflake vitreoretinal degeneration (SVD) [MIM:193230]:
CC Developmental and progressive hereditary eye disorder that affects
CC multiple tissues within the eye. Diagnostic features of SVD include
CC fibrillar degeneration of the vitreous humor, early-onset cataract,
CC minute crystalline deposits in the neurosensory retina, and retinal
CC detachment. {ECO:0000269|PubMed:18179896}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- DISEASE: Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A severe
CC dystrophy of the retina, typically becoming evident in the first years
CC of life. Visual function is usually poor and often accompanied by
CC nystagmus, sluggish or near-absent pupillary responses, photophobia,
CC high hyperopia and keratoconus. {ECO:0000269|PubMed:21763485}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the inward rectifier-type potassium channel (TC
CC 1.A.2.1) family. KCNJ13 subfamily. {ECO:0000305}.
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DR EMBL; AJ007557; CAA07552.1; -; mRNA.
DR EMBL; AF061118; AAC15769.1; -; mRNA.
DR EMBL; AY758240; AAX08098.1; -; mRNA.
DR EMBL; AY758241; AAX08099.1; -; mRNA.
DR EMBL; AB013889; BAA28271.1; -; mRNA.
DR EMBL; AB013891; BAA28273.1; -; mRNA.
DR EMBL; AJ006128; CAA06878.1; -; mRNA.
DR EMBL; AK314019; BAG36730.1; -; mRNA.
DR EMBL; AC064852; AAX93190.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW71019.1; -; Genomic_DNA.
DR EMBL; BC037290; AAH37290.1; -; mRNA.
DR EMBL; AF082182; AAD08673.1; -; Genomic_DNA.
DR CCDS; CCDS2498.1; -. [O60928-1]
DR CCDS; CCDS54437.1; -. [O60928-2]
DR RefSeq; NP_001165887.1; NM_001172416.1. [O60928-2]
DR RefSeq; NP_001165888.1; NM_001172417.1.
DR RefSeq; NP_002233.2; NM_002242.4. [O60928-1]
DR AlphaFoldDB; O60928; -.
DR SMR; O60928; -.
DR STRING; 9606.ENSP00000233826; -.
DR BindingDB; O60928; -.
DR ChEMBL; CHEMBL2146349; -.
DR GuidetoPHARMACOLOGY; 443; -.
DR TCDB; 1.A.2.1.8; the inward rectifier k(+) channel (irk-c) family.
DR iPTMnet; O60928; -.
DR PhosphoSitePlus; O60928; -.
DR BioMuta; KCNJ13; -.
DR MassIVE; O60928; -.
DR PaxDb; O60928; -.
DR PeptideAtlas; O60928; -.
DR PRIDE; O60928; -.
DR ProteomicsDB; 49673; -. [O60928-1]
DR ProteomicsDB; 49674; -. [O60928-2]
DR Antibodypedia; 34443; 126 antibodies from 26 providers.
DR DNASU; 3769; -.
DR Ensembl; ENST00000233826.4; ENSP00000233826.3; ENSG00000115474.7. [O60928-1]
DR Ensembl; ENST00000409779.1; ENSP00000386408.1; ENSG00000115474.7. [O60928-2]
DR Ensembl; ENST00000410029.1; ENSP00000386251.1; ENSG00000115474.7. [O60928-1]
DR GeneID; 3769; -.
DR KEGG; hsa:3769; -.
DR MANE-Select; ENST00000233826.4; ENSP00000233826.3; NM_002242.4; NP_002233.2.
DR UCSC; uc002vtn.4; human. [O60928-1]
DR CTD; 3769; -.
DR DisGeNET; 3769; -.
DR GeneCards; KCNJ13; -.
DR HGNC; HGNC:6259; KCNJ13.
DR HPA; ENSG00000115474; Group enriched (choroid plexus, intestine).
DR MalaCards; KCNJ13; -.
DR MIM; 193230; phenotype.
DR MIM; 603208; gene.
DR MIM; 614186; phenotype.
DR neXtProt; NX_O60928; -.
DR OpenTargets; ENSG00000115474; -.
DR Orphanet; 65; Leber congenital amaurosis.
DR Orphanet; 91496; Snowflake vitreoretinal degeneration.
DR PharmGKB; PA30044; -.
DR VEuPathDB; HostDB:ENSG00000115474; -.
DR eggNOG; KOG3827; Eukaryota.
DR GeneTree; ENSGT00990000203615; -.
DR HOGENOM; CLU_022738_3_3_1; -.
DR InParanoid; O60928; -.
DR OMA; QGQTCLM; -.
DR OrthoDB; 956263at2759; -.
DR PhylomeDB; O60928; -.
DR TreeFam; TF313676; -.
DR PathwayCommons; O60928; -.
DR SignaLink; O60928; -.
DR SIGNOR; O60928; -.
DR BioGRID-ORCS; 3769; 16 hits in 1064 CRISPR screens.
DR ChiTaRS; KCNJ13; human.
DR GeneWiki; KCNJ13; -.
DR GenomeRNAi; 3769; -.
DR Pharos; O60928; Tchem.
DR PRO; PR:O60928; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; O60928; protein.
DR Bgee; ENSG00000115474; Expressed in choroid plexus epithelium and 112 other tissues.
DR ExpressionAtlas; O60928; baseline and differential.
DR Genevisible; O60928; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005242; F:inward rectifier potassium channel activity; IBA:GO_Central.
DR GO; GO:1990573; P:potassium ion import across plasma membrane; IBA:GO_Central.
DR GO; GO:0006813; P:potassium ion transport; NAS:UniProtKB.
DR GO; GO:0034765; P:regulation of ion transmembrane transport; IBA:GO_Central.
DR Gene3D; 2.60.40.1400; -; 1.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR041647; IRK_C.
DR InterPro; IPR016449; K_chnl_inward-rec_Kir.
DR InterPro; IPR013518; K_chnl_inward-rec_Kir_cyto.
DR InterPro; IPR008062; KCNJ13.
DR InterPro; IPR040445; Kir_TM.
DR PANTHER; PTHR11767; PTHR11767; 1.
DR PANTHER; PTHR11767:SF3; PTHR11767:SF3; 1.
DR Pfam; PF01007; IRK; 1.
DR Pfam; PF17655; IRK_C; 1.
DR PIRSF; PIRSF005465; GIRK_kir; 1.
DR PRINTS; PR01679; KIR7CHANNEL.
DR PRINTS; PR01320; KIRCHANNEL.
DR SUPFAM; SSF81296; SSF81296; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cataract; Disease variant; Ion channel;
KW Ion transport; Leber congenital amaurosis; Membrane; Phosphoprotein;
KW Potassium; Potassium transport; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport; Voltage-gated channel.
FT CHAIN 1..360
FT /note="Inward rectifier potassium channel 13"
FT /id="PRO_0000154966"
FT TOPO_DOM 1..53
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250"
FT TRANSMEM 54..78
FT /note="Helical; Name=M1"
FT /evidence="ECO:0000250"
FT TOPO_DOM 79..105
FT /note="Extracellular"
FT /evidence="ECO:0000250"
FT INTRAMEM 106..117
FT /note="Helical; Pore-forming; Name=H5"
FT /evidence="ECO:0000250"
FT INTRAMEM 118..124
FT /note="Pore-forming"
FT /evidence="ECO:0000250"
FT TOPO_DOM 125..133
FT /note="Extracellular"
FT /evidence="ECO:0000250"
FT TRANSMEM 134..155
FT /note="Helical; Name=M2"
FT /evidence="ECO:0000250"
FT TOPO_DOM 156..360
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250"
FT MOTIF 119..124
FT /note="Selectivity filter"
FT /evidence="ECO:0000250"
FT SITE 149
FT /note="Role in the control of polyamine-mediated channel
FT gating and in the blocking by intracellular magnesium"
FT /evidence="ECO:0000250"
FT MOD_RES 201
FT /note="Phosphoserine; by PKC"
FT /evidence="ECO:0000269|PubMed:18976636"
FT MOD_RES 287
FT /note="Phosphoserine; by PKA"
FT /evidence="ECO:0000269|PubMed:18976636"
FT VAR_SEQ 76..94
FT /note="YVLAEMNGDLELDHDAPPE -> CFCGEDCPAKKSSFFNSLY (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:18035352"
FT /id="VSP_042627"
FT VAR_SEQ 95..360
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:18035352"
FT /id="VSP_042628"
FT VARIANT 117
FT /note="Q -> R (in LCA16)"
FT /evidence="ECO:0000269|PubMed:21763485"
FT /id="VAR_066488"
FT VARIANT 162
FT /note="R -> Q (found in a patient with autosomal recessive
FT retinitis pigmentosa; dbSNP:rs757304681)"
FT /evidence="ECO:0000269|PubMed:21763485"
FT /id="VAR_066489"
FT VARIANT 162
FT /note="R -> W (in SVD; overexpression produces a non-
FT selective cation current that depolarizes transfected cells
FT and increases their fragility; dbSNP:rs121918542)"
FT /evidence="ECO:0000269|PubMed:18179896"
FT /id="VAR_043509"
FT VARIANT 175
FT /note="T -> I (in dbSNP:rs1801251)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9738472"
FT /id="VAR_016193"
FT VARIANT 241
FT /note="L -> P (in LCA16; dbSNP:rs143607153)"
FT /evidence="ECO:0000269|PubMed:21763485"
FT /id="VAR_066490"
FT VARIANT 276
FT /note="E -> A (found in a patient with autosomal recessive
FT retinitis pigmentosa; dbSNP:rs374411396)"
FT /evidence="ECO:0000269|PubMed:21763485"
FT /id="VAR_066491"
FT VARIANT 290
FT /note="P -> Q (in dbSNP:rs17853727)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043510"
FT VARIANT 309
FT /note="G -> C (in dbSNP:rs17857137)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043511"
SQ SEQUENCE 360 AA; 40530 MW; 0C49D0DBC619BC50 CRC64;
MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD MRWRWMMLVF
SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV KYITSFTAAF SFSLETQLTI
GYGTMFPSGD CPSAIALLAI QMLLGLMLEA FITGAFVAKI ARPKNRAFSI RFTDTAVVAH
MDGKPNLIFQ VANTRPSPLT SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP
LTYYHSITPS SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA
SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN FQISETGLTE
