No paralogue variants have been mapped to residue 822 for KCNH2.
| KCNH2 | NDIFGEPLNLYAR------P----GKSNGD>V<RALTYCDLHKIHRDDLLEVLDMYPEFSDHF | 852 |
| KCNH1 | GDVFGDVFWKEAT------L----AQSCAN>V<RALTYCDLHVIKRDALQKVLEFYTAFSHSF | 691 |
| KCNH3 | GDLIGCELPRREQ------V----VKANAD>V<KGLTYCVLQCLQLAGLHDSLALYPEFAPRF | 692 |
| KCNH4 | GDLIGADIPEPGQEPGLGADPNFVLKTSAD>V<KALTYCGLQQLSSRGLAEVLRLYPEYGAAF | 676 |
| KCNH5 | GDVFGDIFWKETT------L----AHACAN>V<RALTYCDLHIIKREALLKVLDFYTAFANSF | 660 |
| KCNH6 | NDIFGEPVSLHAQ------P----GKSSAD>V<RALTYCDLHKIQRADLLEVLDMYPAFAESF | 704 |
| KCNH7 | NDIFGEMVHLYAK------P----GKSNAD>V<RALTYCDLHKIQREDLLEVLDMYPEFSDHF | 855 |
| KCNH8 | GDLIGANLSIKDQ------V----IKTNAD>V<KALTYCDLQCIILKGLFEVLDLYPEYAHKF | 661 |
| CNGA1 | GSYFGEISILNIKGSKA--G----NRRTAN>I<KSIGYSDLFCLSKDDLMEALTEYPDAKTML | 595 |
| CNGA2 | GSCFGEISILNIKGSKM--G----NRRTAN>I<RSLGYSDLFCLSKDDLMEAVTEYPDAKKVL | 570 |
| CNGA3 | GSYFGEISILNIKGSKS--G----NRRTAN>I<RSIGYSDLFCLSKDDLMEALTEYPEAKKAL | 598 |
| CNGA4 | GLYFGEISIINIKGNMS--G----NRRTAN>I<KSLGYSDLFCLSKEDLREVLSEYPQAQTIM | 464 |
| CNGB1 | GSVFGEISLLAVGG-----G----NRRTAN>V<VAHGFTNLFILDKKDLNEILVHYPESQKLL | 1076 |
| CNGB3 | GSVFGEISLLAAGG-----G----NRRTAN>V<VAHGFANLLTLDKKTLQEILVHYPDSERIL | 638 |
| HCN1 | GSYFGEICLLTKG------------RRTAS>V<RADTYCRLYSLSVDNFNEVLEEYPMMRRAF | 583 |
| HCN2 | GSYFGEICLLTRG------------RRTAS>V<RADTYCRLYSLSVDNFNEVLEEYPMMRRAF | 652 |
| HCN3 | GSYFGEICLLTRG------------RRTAS>V<RADTYCRLYSLSVDHFNAVLEEFPMMRRAF | 536 |
| HCN4 | GSYFGEICLLTRG------------RRTAS>V<RADTYCRLYSLSVDNFNEVLEEYPMMRRAF | 703 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V822M | c.2464G>A | Inherited Arrhythmia | LQTS | rs121912506 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. Am J Med Genet. 1996 65(1):27-35. 8914737 | ||
| Inherited Arrhythmia | LQTS | C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. Circulation. 1999 99(11):1464-70. 10086971 | |||
| Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998 273(33):21061-6. 9694858 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.Val822Leu | c.2464G>C | Unknown | SIFT: Polyphen: | ||