No paralogue variants have been mapped to residue 1069 for KCNH2.
KCNH2 | ETRLSADMATVLQ--------------LLQ>R<QMTLVPPAYSAVTTP--------------- | 1084 |
KCNH1 | DSCDSGITKSDLR--------------LDN>V<GEARSPQDRSPILAEVKHSF---------- | 914 |
KCNH3 | RQAVTELSEQVLQ--------------MRE>G<LQSLRQAVQLVLAPHREGP----------- | 917 |
KCNH4 | NQEISRLNQEVSQ--------------LSR>E<LRHIMGLLQARLGPP--------------- | 915 |
KCNH5 | DSCDSGITKSDLR--------------LDK>A<GEARSPLEHSPIQADAKHPF---------- | 898 |
KCNH6 | QTPSYGDLDDCSP--------------KHR>N<SSPRMP--HLAVATD--------------- | 926 |
KCNH7 | ESQMTTDIQTILQ--------------LLQ>K<QTTVVPPAYSMVTAGSEYQR---------- | 1082 |
KCNH8 | NSEVTTLTQEVSQ--------------LGK>D<MRNVIQLLENVLSPQQPSRFCSLHSTSVCP | 917 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<------------------------------ | |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | VRPLSASQPSLPHEVSTLISRPHPTVG--->-<ESLASIPQPVTAVPGTGLQ----------- | 828 |
HCN2 | SRPLSASQPSLPHGAPGPAASTRPAS---->-<------------------------------ | 842 |
HCN3 | GRPLSASQPSLPQRATGDGSPGRKGS---->-<------------------------------ | 734 |
HCN4 | LKLISASQPALPQDGAQTLRRASPHSSGES>M<AAFPLFPRAGGGSGGSGS------------ | 1131 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1069S | c.3207G>T | Putative Benign | SIFT: Polyphen: |