No paralogue variants have been mapped to residue 1072 for KCNH2.
KCNH2 | LSADMATVLQ--------------LLQRQM>T<LVPPAYSAVTTP------------------ | 1084 |
KCNH1 | DSGITKSDLR--------------LDNVGE>A<RSPQDRSPILAEVKHSF------------- | 914 |
KCNH3 | VTELSEQVLQ--------------MREGLQ>S<LRQAVQLVLAPHREGP-------------C | 918 |
KCNH4 | ISRLNQEVSQ--------------LSRELR>H<IMGLLQARLGPP------------------ | 915 |
KCNH5 | DSGITKSDLR--------------LDKAGE>A<RSPLEHSPIQADAKHPF------------- | 898 |
KCNH6 | SYGDLDDCSP--------------KHRNSS>P<RMP--HLAVATD------------------ | 926 |
KCNH7 | MTTDIQTILQ--------------LLQKQT>T<VVPPAYSMVTAGSEYQR------------- | 1082 |
KCNH8 | VTTLTQEVSQ--------------LGKDMR>N<VIQLLENVLSPQQPSRFCSLHSTSVCPSRE | 920 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<------------------------------ | |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | LSASQPSLPHEVSTLISRPHPTVG----ES>L<ASIPQPVTAVPGTGLQ-------------- | 828 |
HCN2 | LSASQPSLPHGAPGPAASTRPAS------->-<------------------------------ | 842 |
HCN3 | LSASQPSLPQRATGDGSPGRKGS------->-<------------------------------ | 734 |
HCN4 | ISASQPALPQDGAQTLRRASPHSSGESMAA>F<PLFPRAGGGSGGSGS--------------- | 1131 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1072M | c.3215C>T | Putative Benign | SIFT: Polyphen: |