No paralogue variants have been mapped to residue 1131 for KCNH2.
KCNH2 | -----------------------------E>G<--------PTRRLSLPGQL---GALTSQP- | 1149 |
KCNH1 | ------------------------------>-<---------------SQSP---QELFEISR | 975 |
KCNH3 | PRATAFWTSTSDSEPPASGDLCSEPSTPAS>-<------PPPSEEGAR-TGP---AEPVSQAE | 1037 |
KCNH4 | --------SILPPYPSEPDPLG-------->-<------PSPVPEASPPTPS---LLRHSFQS | 1011 |
KCNH5 | ------------------------ASSPKS>Q<M------PLQVP--PQIPC---QDIFSVSR | 975 |
KCNH6 | ------------------------------>-<--------P-CFSSLPEHL---GSVPKQLD | 978 |
KCNH7 | ----------LKQDSDLSLELHLRQRKTYV>H<--------PIRHPSLPDSS---LSTVGIVG | 1183 |
KCNH8 | RCISPHSDSTLTPLQSISATLSSSVCSSSE>T<SLHLVLPSRSEEGSFSQGT---VSSFSLEN | 1067 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<-------------MSPGPEPGEQILSVKMP | 1243 |
CNGB3 | ------------------------------>-<-------------MAPSAEGGEEVLTIEVK | 804 |
HCN1 | --------------------------PP-->-<-----------AAALPRES---SSVLNTD- | 878 |
HCN2 | --------------------------RR-->-<-----------DSASPGAA---GG---LD- | 876 |
HCN3 | --------------------------VP-->-<-----------EPATP-------------- | 765 |
HCN4 | ---------------------------P-->-<-----------LTAGPQRE---PG---AR- | 1191 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1131V | c.3392G>T | Putative Benign | rs370558996 | SIFT: tolerated Polyphen: probably damaging |