No paralogue variants have been mapped to residue 816 for KCNH2.
| KCNH2 | VAILGKNDIFGEPLNLYAR------P---->G<KSNGDVRALTYCDLHKIHRDDLLEVLDMYP | 846 |
| KCNH1 | VAILGKGDVFGDVFWKEAT------L---->A<QSCANVRALTYCDLHVIKRDALQKVLEFYT | 685 |
| KCNH3 | LAILGKGDLIGCELPRREQ------V---->V<KANADVKGLTYCVLQCLQLAGLHDSLALYP | 686 |
| KCNH4 | LAILGKGDLIGADIPEPGQEPGLGADPNFV>L<KTSADVKALTYCGLQQLSSRGLAEVLRLYP | 670 |
| KCNH5 | VAILGKGDVFGDIFWKETT------L---->A<HACANVRALTYCDLHIIKREALLKVLDFYT | 654 |
| KCNH6 | VAILGKNDIFGEPVSLHAQ------P---->G<KSSADVRALTYCDLHKIQRADLLEVLDMYP | 698 |
| KCNH7 | VAILGKNDIFGEMVHLYAK------P---->G<KSNADVRALTYCDLHKIQREDLLEVLDMYP | 849 |
| KCNH8 | LAILGKGDLIGANLSIKDQ------V---->I<KTNADVKALTYCDLQCIILKGLFEVLDLYP | 655 |
| CNGA1 | FVVLSDGSYFGEISILNIKGSKA--G---->N<RRTANIKSIGYSDLFCLSKDDLMEALTEYP | 589 |
| CNGA2 | YALLSAGSCFGEISILNIKGSKM--G---->N<RRTANIRSLGYSDLFCLSKDDLMEAVTEYP | 564 |
| CNGA3 | FVVLSDGSYFGEISILNIKGSKS--G---->N<RRTANIRSIGYSDLFCLSKDDLMEALTEYP | 592 |
| CNGA4 | YAVLGAGLYFGEISIINIKGNMS--G---->N<RRTANIKSLGYSDLFCLSKEDLREVLSEYP | 458 |
| CNGB1 | LVTLKAGSVFGEISLLAVGG-----G---->N<RRTANVVAHGFTNLFILDKKDLNEILVHYP | 1070 |
| CNGB3 | LVTLKAGSVFGEISLLAAGG-----G---->N<RRTANVVAHGFANLLTLDKKTLQEILVHYP | 632 |
| HCN1 | EMKLTDGSYFGEICLLTKG----------->-<RRTASVRADTYCRLYSLSVDNFNEVLEEYP | 577 |
| HCN2 | EMKLSDGSYFGEICLLTRG----------->-<RRTASVRADTYCRLYSLSVDNFNEVLEEYP | 646 |
| HCN3 | DTRLTDGSYFGEICLLTRG----------->-<RRTASVRADTYCRLYSLSVDHFNAVLEEFP | 530 |
| HCN4 | ETKLADGSYFGEICLLTRG----------->-<RRTASVRADTYCRLYSLSVDNFNEVLEEYP | 697 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G816V | c.2447G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype. Pacing Clin Electrophysiol. 2012 35(1):3-16. doi: 10.1111/j.1540-8159.2011.03222.x. 21951015 | ||