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 27-MAR-2024, entry version 239. 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 REVIEW, AND VARIANTS LQT2 VAL-615; SER-626; LEU-627; GLU-638; LEU-645; RP TRP-752; SER-805; LEU-917 AND TRP-922. 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 form of short QT CC syndrome, a heart disorder characterized by idiopathic persistently and CC uniformly short QT interval on ECG in the absence of structural heart CC disease in affected individuals. It can cause 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) CC (TC 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 --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 EMDB; EMD-8650; -. DR EMDB; EMD-8651; -. DR EMDB; EMD-8652; -. DR SMR; Q12809; -. DR BioGRID; 109959; 55. 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; DB00836; Loperamide. 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; DB03701; Vanoxerine. 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 GlyCosmos; Q12809; 1 site, No reported glycans. DR GlyGen; Q12809; 2 sites. DR iPTMnet; Q12809; -. DR PhosphoSitePlus; Q12809; -. DR BioMuta; KCNH2; -. DR DMDM; 7531135; -. DR jPOST; Q12809; -. DR MassIVE; Q12809; -. DR PaxDb; 9606-ENSP00000262186; -. DR PeptideAtlas; Q12809; -. DR ProteomicsDB; 58963; -. [Q12809-1] DR ProteomicsDB; 58964; -. [Q12809-2] DR ProteomicsDB; 58965; -. [Q12809-4] DR ProteomicsDB; 7598; -. DR Pumba; Q12809; -. DR Antibodypedia; 32919; 441 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 AGR; HGNC:6251; -. 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; TEDCEKR; -. DR OrthoDB; 66005at2759; -. 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; 20 hits in 1176 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 149 other cell types or tissues. DR ExpressionAtlas; Q12809; baseline and differential. DR GO; GO:0009986; C:cell surface; IDA:BHF-UCL. 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:0045893; P:positive regulation of DNA-templated transcription; IMP:ARUK-UCL. DR GO; GO:1901381; P:positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL. DR GO; GO:0097623; P:potassium ion export across plasma membrane; IDA:BHF-UCL. DR GO; GO:0055075; P:potassium ion homeostasis; 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; 1.10.1200.260; -; 1. DR Gene3D; 1.10.287.70; -; 1. DR Gene3D; 2.60.120.10; Jelly Rolls; 1. DR Gene3D; 3.30.450.20; PAS domain; 1. DR InterPro; IPR000595; cNMP-bd_dom. DR InterPro; IPR018490; cNMP-bd_dom_sf. 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 NCBIfam; TIGR00229; sensory_box; 1. DR PANTHER; PTHR10217:SF506; POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY H MEMBER 2; 1. DR PANTHER; PTHR10217; VOLTAGE AND LIGAND GATED POTASSIUM CHANNEL; 1. 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; cAMP-binding domain-like; 1. DR SUPFAM; SSF55785; PYP-like sensor domain (PAS domain); 1. DR SUPFAM; SSF81324; Voltage-gated potassium channels; 1. DR PROSITE; PS50042; CNMP_BINDING_3; 1. DR PROSITE; PS50113; PAC; 1. DR PROSITE; PS50112; PAS; 1. DR Genevisible; Q12809; HS. 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; uncertain significance; FT dbSNP:rs199472825)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074765" FT VARIANT 20 FT /note="R -> G (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472835)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074769" FT VARIANT 43 FT /note="Y -> C (in LQT2; uncertain significance; FT dbSNP:rs199472836)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074770" FT VARIANT 45 FT /note="N -> Y (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472840)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074772" FT VARIANT 53 FT /note="G -> D (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472846)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074775" FT VARIANT 58 FT /note="E -> A (in LQT2; uncertain significance; FT dbSNP:rs199472847)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074776" FT VARIANT 58 FT /note="E -> D (in LQT2; uncertain significance; FT dbSNP:rs199473492)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074777" FT VARIANT 58 FT /note="E -> G (in LQT2; uncertain significance; FT dbSNP:rs199472847)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074778" FT VARIANT 64 FT /note="C -> W (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199473417)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074780" FT VARIANT 70 FT /note="H -> N (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199473420)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074782" FT VARIANT 72..80 FT /note="PRTQRRAAA -> RPV (in LQT2; uncertain significance)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074783" FT VARIANT 72 FT /note="P -> L (in LQT2; uncertain significance; FT dbSNP:rs199473421)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074784" FT VARIANT 72 FT /note="P -> Q (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199473666)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074786" FT VARIANT 74 FT /note="T -> R (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs121912515)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074790" FT VARIANT 102 FT /note="D -> A (in LQT2; uncertain significance; FT dbSNP:rs199472857)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074791" FT VARIANT 106 FT /note="F -> Y (in LQT2; uncertain significance; FT dbSNP:rs199472858)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074792" FT VARIANT 108 FT /note="C -> R (in LQT2; uncertain significance; FT dbSNP:rs199472859)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074793" FT VARIANT 114 FT /note="P -> S (in LQT2; uncertain significance; FT dbSNP:rs199472861)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074794" FT VARIANT 125 FT /note="F -> C (in LQT2; uncertain significance; FT dbSNP:rs199473499)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074795" FT VARIANT 141 FT /note="P -> L (in LQT2; uncertain significance; FT dbSNP:rs199472864)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074796" FT VARIANT 149 FT /note="G -> A (in LQT2; uncertain significance; FT dbSNP:rs199472865)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074797" FT VARIANT 164 FT /note="R -> H (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472872)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074800" FT VARIANT 251 FT /note="P -> S (in LQT2; uncertain significance; FT dbSNP:rs199472873)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074801" FT VARIANT 259 FT /note="D -> N (in LQT2; uncertain significance; FT dbSNP:rs199472876)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074802" FT VARIANT 277 FT /note="A -> D (in LQT2; uncertain significance; FT dbSNP:rs199472878)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074803" FT VARIANT 291 FT /note="M -> T (in LQT2; uncertain significance; FT dbSNP:rs199472881)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074804" FT VARIANT 301 FT /note="R -> L (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472885)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_009911" FT VARIANT 314 FT /note="G -> S (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473506)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074808" FT VARIANT 410 FT /note="W -> S (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472896)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074810" FT VARIANT 427 FT /note="Y -> C (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472899)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074813" FT VARIANT 431 FT /note="F -> L (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472903)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074816" FT VARIANT 466 FT /note="D -> Y (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472911)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074821" FT VARIANT 493 FT /note="Y -> S (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472912)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074823" FT VARIANT 501 FT /note="D -> N (in LQT2; uncertain 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 FT Pro-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 FT Asn-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; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473518)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074829" FT VARIANT 566 FT /note="C -> S (in LQT2; uncertain significance; FT dbSNP:rs199472925)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074830" FT VARIANT 568 FT /note="W -> R (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473426)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074835" FT VARIANT 584 FT /note="G -> R (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472931)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074838" FT VARIANT 596 FT /note="P -> H (in LQT2; uncertain significance; FT dbSNP:rs199472933)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074839" FT VARIANT 596 FT /note="P -> L (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472934)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074841" FT VARIANT 599 FT /note="S -> R (in LQT2; uncertain significance; FT dbSNP:rs199472935)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074842" FT VARIANT 601 FT /note="G -> C (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472938)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074844" FT VARIANT 605 FT /note="P -> S (in LQT2; uncertain significance; FT dbSNP:rs199472939)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074845" FT VARIANT 609 FT /note="D -> G (in LQT2; uncertain significance; FT dbSNP:rs199472940)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074846" FT VARIANT 609 FT /note="D -> H (in LQT2; uncertain 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; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014375" FT VARIANT 616 FT /note="Y -> C (in LQT2; uncertain significance; FT dbSNP:rs199472946)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074849" FT VARIANT 621 FT /note="S -> R (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472952)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074851" FT VARIANT 626 FT /note="G -> D (in LQT2; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014376" FT VARIANT 627 FT /note="F -> L (in LQT2; dbSNP:rs199473039)" FT /evidence="ECO:0000269|PubMed:10973849" 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; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" 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; uncertain significance; FT dbSNP:rs199472962)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074854" FT VARIANT 635 FT /note="N -> D (in LQT2; uncertain 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; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014380" FT VARIANT 638 FT /note="K -> N (in LQT2; uncertain significance; FT dbSNP:rs199472969)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074858" FT VARIANT 638 FT /note="Missing (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472972)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074860" FT VARIANT 645 FT /note="M -> I (in LQT2; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014382" FT VARIANT 648 FT /note="G -> S (in LQT2; uncertain significance; FT dbSNP:rs199472975)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074862" FT VARIANT 656 FT /note="F -> C (in LQT2; uncertain significance; FT dbSNP:rs199472977)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074863" FT VARIANT 657 FT /note="G -> R (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199472981)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074867" FT VARIANT 687 FT /note="H -> Y (in LQT2; uncertain significance; FT dbSNP:rs199472982)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074868" FT VARIANT 693 FT /note="L -> P (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199473531)" FT /evidence="ECO:0000269|PubMed:16414944" FT /id="VAR_074870" FT VARIANT 711 FT /note="I -> V (in LQT2; uncertain 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; uncertain 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 FT half-maximal activation voltage is not significantly FT affected by the mutation)" FT /evidence="ECO:0000269|PubMed:22314138" FT /id="VAR_068276" FT VARIANT 749 FT /note="G -> V (in LQT2; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014383" FT VARIANT 757 FT /note="K -> N (in LQT2; uncertain significance; FT dbSNP:rs199472992)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074874" FT VARIANT 767 FT /note="D -> Y (in LQT2; uncertain significance; FT dbSNP:rs199472993)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074875" FT VARIANT 770 FT /note="V -> A (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199472997)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074877" FT VARIANT 791..799 FT /note="Missing (in LQT2; uncertain significance)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074878" FT VARIANT 791 FT /note="R -> W (in LQT2; uncertain significance; FT dbSNP:rs138498207)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074879" FT VARIANT 800 FT /note="G -> W (in LQT2; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014385" FT VARIANT 806 FT /note="G -> E (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473005)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074883" FT VARIANT 846 FT /note="P -> S (in LQT2; uncertain significance; FT dbSNP:rs199473006)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074884" FT VARIANT 861 FT /note="N -> H (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473433)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074887" FT VARIANT 894 FT /note="R -> L (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199473669)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074889" FT VARIANT 906 FT /note="S -> L (in LQT2; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014389" FT VARIANT 920 FT /note="R -> Q (in LQT2; uncertain significance; FT dbSNP:rs199473670)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074891" FT VARIANT 920 FT /note="R -> W (in LQT2; uncertain significance; FT dbSNP:rs199473438)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074892" FT VARIANT 922 FT /note="R -> Q (in LQT2; uncertain 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 /evidence="ECO:0000269|PubMed:10973849" FT /id="VAR_014390" FT VARIANT 924 FT /note="G -> A (in LQT2; uncertain significance; FT dbSNP:rs199473009)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074894" FT VARIANT 924 FT /note="G -> E (in LQT2; uncertain 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; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473019)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074898" FT VARIANT 1007 FT /note="R -> H (in LQT2; uncertain 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; uncertain 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; uncertain significance; FT dbSNP:rs199473544)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074901" FT VARIANT 1049 FT /note="L -> P (in LQT2; uncertain 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; uncertain significance; FT dbSNP:rs199473027)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074903" FT VARIANT 1078 FT /note="Y -> C (in LQT2; uncertain significance; FT dbSNP:rs199473029)" FT /evidence="ECO:0000269|PubMed:19716085" FT /id="VAR_074904" FT VARIANT 1093 FT /note="P -> L (in LQT2; uncertain 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; uncertain 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 //