No paralogue variants have been mapped to residue 1077 for KCNH2.
KCNH2 | ATVLQ--------------LLQRQMTLVPP>A<YSAVTTP----------------------- | 1084 |
KCNH1 | KSDLR--------------LDNVGEARSPQ>D<RSPILAEVKHSF-------------YPIPE | 919 |
KCNH3 | EQVLQ--------------MREGLQSLRQA>V<QLVLAPHREGP-------------CPRAS- | 922 |
KCNH4 | QEVSQ--------------LSRELRHIMGL>L<QARLGPP------------------GHPAG | 920 |
KCNH5 | KSDLR--------------LDKAGEARSPL>E<HSPIQADAKHPF-------------YPIPE | 903 |
KCNH6 | DDCSP--------------KHRNSSPRMP->-<HLAVATD----------------------- | 926 |
KCNH7 | QTILQ--------------LLQKQTTVVPP>A<YSMVTAGSEYQR-------------PIIQL | 1087 |
KCNH8 | QEVSQ--------------LGKDMRNVIQL>L<ENVLSPQQPSRFCSLHSTSVCPSRESLQTR | 925 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<------------------------------ | |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | PSLPHEVSTLISRPHPTVG----ESLASIP>Q<PVTAVPGTGLQ-----------------AG | 830 |
HCN2 | PSLPHGAPGPAASTRPAS------------>-<------------------------------ | 842 |
HCN3 | PSLPQRATGDGSPGRKGS------------>-<------------------------------ | 734 |
HCN4 | PALPQDGAQTLRRASPHSSGESMAAFPLFP>R<AGGGSGGSGS-------------------- | 1131 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1077T | c.3229G>A | Putative Benign | rs201382073 | SIFT: deleterious Polyphen: probably damaging | |
p.A1077D | c.3230C>A | Putative Benign | SIFT: Polyphen: |