No paralogue variants have been mapped to residue 734 for KCNH2.
KCNH2 | AWSYTNGIDMNAVLKGFPECLQADICLHLN>R<SLLQHCKPFRGATKGCLRALAMKFKTTHAP | 764 |
KCNH1 | TWSMSRGIDTEKVLQICPKDMRADICVHLN>R<KVFKEHPAFRLASDGCLRALAMEFQTVHCA | 603 |
KCNH3 | TWAVNNGIDTTELLQSLPDELRADIAMHLH>K<EVL-QLPLFEAASRGCLRALSLALRPAFCT | 604 |
KCNH4 | TWAVNSGIDANELLRDFPDELRADIAMHLN>R<EIL-QLPLFGAASRGCLRALSLHIKTSFCA | 578 |
KCNH5 | TWSMSKGIDTEKVLSICPKDMRADICVHLN>R<KVFNEHPAFRLASDGCLRALAVEFQTIHCA | 572 |
KCNH6 | AWSYTNGIDMNAVLKGFPECLQADICLHLH>R<ALLQHCPAFSGAGKGCLRALAVKFKTTHAP | 616 |
KCNH7 | AWTYTNGIDMNMVLKGFPECLQADICLHLN>Q<TLLQNCKAFRGASKGCLRALAMKFKTTHAP | 767 |
KCNH8 | TWSVNNGIDSNELLKDFPDELRSDITMHLN>K<EIL-QLSLFECASRGCLRSLSLHIKTSFCA | 573 |
CNGA1 | LWTNKKTVDEKEVLKYLPDKLRAEIAINVH>L<DTLKKVRIFADCEAGLLVELVLKLQPQVYS | 501 |
CNGA2 | LWTNKKTVDEREILKNLPAKLRAEIAINVH>L<STLKKVRIFHDCEAGLLVELVLKLRPQVFS | 476 |
CNGA3 | LWANKKTVDEKEVLKSLPDKLKAEIAINVH>L<DTLKKVRIFQDCEAGLLVELVLKLRPTVFS | 504 |
CNGA4 | LQINKKMTNEVAILQHLPERLRAEVAVSVH>L<STLSRVQIFQNCEASLLEELVLKLQPQTYS | 370 |
CNGB1 | TWHSQGMLDESELMVQLPDKMRLDLAIDVN>Y<NIVSKVALFQGCDRQMIFDMLKRLRSVVYL | 984 |
CNGB3 | TWDSQRMLDESDLLKTLPTTVQLALAIDVN>F<SIISKVDLFKGCDTQMIYDMLLRLKSVLYL | 546 |
HCN1 | RYQG-KIFDEENILNELNDPLREEIVNFNC>R<KLVATMPLFANADPNFVTAMLSKLRFEVFQ | 497 |
HCN2 | RYQG-KMFDEDSILGELNGPLREEIVNFNC>R<KLVASMPLFANADPNFVTAMLTKLKFEVFQ | 566 |
HCN3 | RYQG-KMFDEESILGELSEPLREEIINFTC>R<GLVAHMPLFAHADPSFVTAVLTKLRFEVFQ | 450 |
HCN4 | RYQG-KMFDEESILGELSEPLREEIINFNC>R<KLVASMPLFANADPNFVTSMLTKLRFEVFQ | 617 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R734C | c.2200C>T | Putative Benign | rs143072395 | SIFT: deleterious Polyphen: probably damaging |