No paralogue variants have been mapped to residue 1071 for KCNH2.
KCNH2 | RLSADMATVLQ--------------LLQRQ>M<TLVPPAYSAVTTP----------------- | 1084 |
KCNH1 | CDSGITKSDLR--------------LDNVG>E<ARSPQDRSPILAEVKHSF------------ | 914 |
KCNH3 | AVTELSEQVLQ--------------MREGL>Q<SLRQAVQLVLAPHREGP------------- | 917 |
KCNH4 | EISRLNQEVSQ--------------LSREL>R<HIMGLLQARLGPP----------------- | 915 |
KCNH5 | CDSGITKSDLR--------------LDKAG>E<ARSPLEHSPIQADAKHPF------------ | 898 |
KCNH6 | PSYGDLDDCSP--------------KHRNS>S<PRMP--HLAVATD----------------- | 926 |
KCNH7 | QMTTDIQTILQ--------------LLQKQ>T<TVVPPAYSMVTAGSEYQR------------ | 1082 |
KCNH8 | EVTTLTQEVSQ--------------LGKDM>R<NVIQLLENVLSPQQPSRFCSLHSTSVCPSR | 919 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<------------------------------ | |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | PLSASQPSLPHEVSTLISRPHPTVG----E>S<LASIPQPVTAVPGTGLQ------------- | 828 |
HCN2 | PLSASQPSLPHGAPGPAASTRPAS------>-<------------------------------ | 842 |
HCN3 | PLSASQPSLPQRATGDGSPGRKGS------>-<------------------------------ | 734 |
HCN4 | LISASQPALPQDGAQTLRRASPHSSGESMA>A<FPLFPRAGGGSGGSGS-------------- | 1131 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1071V | c.3211A>G | Putative Benign | SIFT: tolerated Polyphen: benign |