No paralogue variants have been mapped to residue 831 for KCNH2.
| KCNH2 | LYAR------P----GKSNGDVRALTYCDL>H<KIHRDDLLEVLDMYPEFSDHFWSSL--EIT | 859 |
| KCNH1 | KEAT------L----AQSCANVRALTYCDL>H<VIKRDALQKVLEFYTAFSHSFSRNL--ILT | 698 |
| KCNH3 | RREQ------V----VKANADVKGLTYCVL>Q<CLQLAGLHDSLALYPEFAPRFSRGLRGELS | 701 |
| KCNH4 | EPGQEPGLGADPNFVLKTSADVKALTYCGL>Q<QLSSRGLAEVLRLYPEYGAAFRAGLPRDLT | 685 |
| KCNH5 | KETT------L----AHACANVRALTYCDL>H<IIKREALLKVLDFYTAFANSFSRNL--TLT | 667 |
| KCNH6 | LHAQ------P----GKSSADVRALTYCDL>H<KIQRADLLEVLDMYPAFAESFWSKL--EVT | 711 |
| KCNH7 | LYAK------P----GKSNADVRALTYCDL>H<KIQREDLLEVLDMYPEFSDHFLTNL--ELT | 862 |
| KCNH8 | IKDQ------V----IKTNADVKALTYCDL>Q<CIILKGLFEVLDLYPEYAHKFVEDIQHDLT | 670 |
| CNGA1 | LNIKGSKA--G----NRRTANIKSIGYSDL>F<CLSKDDLMEALTEYPDAKTMLEEKGKQILM | 604 |
| CNGA2 | LNIKGSKM--G----NRRTANIRSLGYSDL>F<CLSKDDLMEAVTEYPDAKKVLEERGREILM | 579 |
| CNGA3 | LNIKGSKS--G----NRRTANIRSIGYSDL>F<CLSKDDLMEALTEYPEAKKALEEKGRQILM | 607 |
| CNGA4 | INIKGNMS--G----NRRTANIKSLGYSDL>F<CLSKEDLREVLSEYPQAQTIMEEKGREILL | 473 |
| CNGB1 | LAVGG-----G----NRRTANVVAHGFTNL>F<ILDKKDLNEILVHYPESQKLLRKKARRMLR | 1085 |
| CNGB3 | LAAGG-----G----NRRTANVVAHGFANL>L<TLDKKTLQEILVHYPDSERILMKKARVLLK | 647 |
| HCN1 | LTKG------------RRTASVRADTYCRL>Y<SLSVDNFNEVLEEYPMMRRAFETVAIDRLD | 592 |
| HCN2 | LTRG------------RRTASVRADTYCRL>Y<SLSVDNFNEVLEEYPMMRRAFETVAIDRLD | 661 |
| HCN3 | LTRG------------RRTASVRADTYCRL>Y<SLSVDHFNAVLEEFPMMRRAFETVAMDRLL | 545 |
| HCN4 | LTRG------------RRTASVRADTYCRL>Y<SLSVDNFNEVLEEYPMMRRAFETVALDRLD | 712 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H831P | c.2492A>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||