No paralogue variants have been mapped to residue 826 for KCNH2.
| KCNH2 | GEPLNLYAR------P----GKSNGDVRAL>T<YCDLHKIHRDDLLEVLDMYPEFSDHFWSSL | 856 |
| KCNH1 | GDVFWKEAT------L----AQSCANVRAL>T<YCDLHVIKRDALQKVLEFYTAFSHSFSRNL | 695 |
| KCNH3 | GCELPRREQ------V----VKANADVKGL>T<YCVLQCLQLAGLHDSLALYPEFAPRFSRGL | 696 |
| KCNH4 | GADIPEPGQEPGLGADPNFVLKTSADVKAL>T<YCGLQQLSSRGLAEVLRLYPEYGAAFRAGL | 680 |
| KCNH5 | GDIFWKETT------L----AHACANVRAL>T<YCDLHIIKREALLKVLDFYTAFANSFSRNL | 664 |
| KCNH6 | GEPVSLHAQ------P----GKSSADVRAL>T<YCDLHKIQRADLLEVLDMYPAFAESFWSKL | 708 |
| KCNH7 | GEMVHLYAK------P----GKSNADVRAL>T<YCDLHKIQREDLLEVLDMYPEFSDHFLTNL | 859 |
| KCNH8 | GANLSIKDQ------V----IKTNADVKAL>T<YCDLQCIILKGLFEVLDLYPEYAHKFVEDI | 665 |
| CNGA1 | GEISILNIKGSKA--G----NRRTANIKSI>G<YSDLFCLSKDDLMEALTEYPDAKTMLEEKG | 599 |
| CNGA2 | GEISILNIKGSKM--G----NRRTANIRSL>G<YSDLFCLSKDDLMEAVTEYPDAKKVLEERG | 574 |
| CNGA3 | GEISILNIKGSKS--G----NRRTANIRSI>G<YSDLFCLSKDDLMEALTEYPEAKKALEEKG | 602 |
| CNGA4 | GEISIINIKGNMS--G----NRRTANIKSL>G<YSDLFCLSKEDLREVLSEYPQAQTIMEEKG | 468 |
| CNGB1 | GEISLLAVGG-----G----NRRTANVVAH>G<FTNLFILDKKDLNEILVHYPESQKLLRKKA | 1080 |
| CNGB3 | GEISLLAAGG-----G----NRRTANVVAH>G<FANLLTLDKKTLQEILVHYPDSERILMKKA | 642 |
| HCN1 | GEICLLTKG------------RRTASVRAD>T<YCRLYSLSVDNFNEVLEEYPMMRRAFETVA | 587 |
| HCN2 | GEICLLTRG------------RRTASVRAD>T<YCRLYSLSVDNFNEVLEEYPMMRRAFETVA | 656 |
| HCN3 | GEICLLTRG------------RRTASVRAD>T<YCRLYSLSVDHFNAVLEEFPMMRRAFETVA | 540 |
| HCN4 | GEICLLTRG------------RRTASVRAD>T<YCRLYSLSVDNFNEVLEEYPMMRRAFETVA | 707 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T826I | c.2477C>T | Inherited Arrhythmia | LQTS | rs199473002 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||