No paralogue variants have been mapped to residue 1154 for KCNH2.
KCNH2 | ----PTRRLSLPGQL---GALTSQP-LHRH>G<SDPG-------------------------- | 1158 |
KCNH1 | -----------SQSP---QELFEISRPQSP>E<SERDIFGA---------------------- | 988 |
KCNH3 | --PPPSEEGAR-TGP---AEPVSQAEATST>G<EPPPGSGGLALPWDPHSLEMVLIGCHGSGT | 1072 |
KCNH4 | --PSPVPEASPPTPS---LLRHSFQSRSDT>F<------------------------------ | 1016 |
KCNH5 | ---PLQVP--PQIPC---QDIFSVSRPESP>E<SDKDEIH----------------------- | 987 |
KCNH6 | ----P-CFSSLPEHL---GSVPKQLDFQRH>G<SDPGFAGSWG-------------------- | 993 |
KCNH7 | ----PIRHPSLPDSS---LSTVGIVGLHRH>V<SDPGLPG----------------------- | 1195 |
KCNH8 | VLPSRSEEGSFSQGT---VSSFSLENLPGS>W<NQEGMASASTKPLENLPLEVVTS------T | 1096 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ---------MSPGPEPGEQILSVKMPEERE>E<-KAE-------------------------- | 1251 |
CNGB3 | ---------MAPSAEGGEEVLTIEVKEKAK>Q<------------------------------ | 809 |
HCN1 | -------AAALPRES---SSVLNTD-P-DA>E<KP-RFASN---------------------- | 889 |
HCN2 | -------DSASPGAA---GG---LD-PQDS>A<RS-RLSSN---------------------- | 888 |
HCN3 | -------EPATP------------------>R<GL-QLSAN---------------------- | 773 |
HCN4 | -------LTAGPQRE---PG---AR-P-EP>V<RS-KLPSN---------------------- | 1202 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1154S | c.3460G>A | Putative Benign | rs199473548 | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Putative Benign | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 |