No paralogue variants have been mapped to residue 855 for KCNH2.
KCNH2 | LTYCDLHKIHRDDLLEVLDMYPEFSDHFWS>S<L--EIT-FNLRDTNM-IP-GSP---GSTEL | 877 |
KCNH1 | LTYCDLHVIKRDALQKVLEFYTAFSHSFSR>N<L--ILT-YNLRKRIV-FRKISD---VKREE | 717 |
KCNH3 | LTYCVLQCLQLAGLHDSLALYPEFAPRFSR>G<LRGELS-YNLGAGGG-SAEVDT-----SSL | 718 |
KCNH4 | LTYCGLQQLSSRGLAEVLRLYPEYGAAFRA>G<LPRDLT-FNLRQGSD-TSGLSR-----FSR | 702 |
KCNH5 | LTYCDLHIIKREALLKVLDFYTAFANSFSR>N<L--TLT-CNLRKRII-FRKISD---VKKEE | 686 |
KCNH6 | LTYCDLHKIQRADLLEVLDMYPAFAESFWS>K<L--EVT-FNLRDAAG-GL-------HSSPR | 726 |
KCNH7 | LTYCDLHKIQREDLLEVLDMYPEFSDHFLT>N<L--ELT-FNLRHESA-KA-DLLRSQSMNDS | 883 |
KCNH8 | LTYCDLQCIILKGLFEVLDLYPEYAHKFVE>D<IQHDLT-YNLREGHE-SDVISR-----LSN | 687 |
CNGA1 | IGYSDLFCLSKDDLMEALTEYPDAKTMLEE>K<GKQILMKDGLLDLNI-ANAGSD---PKDLE | 624 |
CNGA2 | LGYSDLFCLSKDDLMEAVTEYPDAKKVLEE>R<GREILMKEGLLDENE-VATS-M---EVDVQ | 598 |
CNGA3 | IGYSDLFCLSKDDLMEALTEYPEAKKALEE>K<GRQILMKDNLIDEEL-ARAGAD---PKDLE | 627 |
CNGA4 | LGYSDLFCLSKEDLREVLSEYPQAQTIMEE>K<GREILLKMNKLDVNA-EAAEIA---LQEAT | 493 |
CNGB1 | HGFTNLFILDKKDLNEILVHYPESQKLLRK>K<ARRMLRSNNKPK------EE-K-----SVL | 1097 |
CNGB3 | HGFANLLTLDKKTLQEILVHYPDSERILMK>K<ARVLLKQKAKTA-EATPPRK-D-----LAL | 664 |
HCN1 | DTYCRLYSLSVDNFNEVLEEYPMMRRAFET>V<AIDRLDRIGKKNSIL-LQKFQ------KDL | 609 |
HCN2 | DTYCRLYSLSVDNFNEVLEEYPMMRRAFET>V<AIDRLDRIGKKNSIL-LHKVQ------HDL | 678 |
HCN3 | DTYCRLYSLSVDHFNAVLEEFPMMRRAFET>V<AMDRLLRIGKKNSIL-QRKRS------EPS | 562 |
HCN4 | DTYCRLYSLSVDNFNEVLEEYPMMRRAFET>V<ALDRLDRIGKKNSIL-LHKVQ------HDL | 729 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S855R | c.2565C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 |