No paralogue variants have been mapped to residue 1083 for KCNH2.
KCNH2 | -------------LLQRQMTLVPPAYSAVT>T<P------------------------GPGPT | 1089 |
KCNH1 | -------------LDNVGEARSPQDRSPIL>A<EVKHSF-------------YPIPEQTLQAT | 925 |
KCNH3 | -------------MREGLQSLRQAVQLVLA>P<HREGP-------------CPRAS-----GE | 924 |
KCNH4 | -------------LSRELRHIMGLLQARLG>P<P------------------GHPAGSAWTPD | 926 |
KCNH5 | -------------LDKAGEARSPLEHSPIQ>A<DAKHPF-------------YPIPEQALQTT | 909 |
KCNH6 | -------------KHRNSSPRMP--HLAVA>T<D------------------------KTLAP | 931 |
KCNH7 | -------------LLQKQTTVVPPAYSMVT>A<GSEYQR-------------PIIQLMRTSQP | 1093 |
KCNH8 | -------------LGKDMRNVIQLLENVLS>P<QQPSRFCSLHSTSVCPSRESLQTRTSWSAH | 931 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<------------------------LGRPEG | 1210 |
CNGB3 | ------------------------------>-<------------------------VRR--- | 772 |
HCN1 | VSTLISRPHPTVG----ESLASIPQPVTAV>P<GTGLQ-----------------AG----G- | 831 |
HCN2 | APGPAASTRPAS------------------>-<----------------------------S- | 843 |
HCN3 | ATGDGSPGRKGS------------------>-<----------------------------G- | 735 |
HCN4 | GAQTLRRASPHSSGESMAAFPLFPRAGGGS>G<GSGS------------------------S- | 1132 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1083A | c.3247A>G | Putative Benign | SIFT: Polyphen: |