No paralogue variants have been mapped to residue 1087 for KCNH2.
KCNH2 | VTTP------------------------GP>G<PTSTSPLL-----PVSPLP-TLTLDSLSQV | 1111 |
KCNH1 | ILAEVKHSF-------------YPIPEQTL>Q<ATVLEVRH-----ELKEDIKALNAKMTNIE | 948 |
KCNH3 | LAPHREGP-------------CPRAS---->-<GEGPCPASTSGLLQPLCVDTGASSYCLQPP | 952 |
KCNH4 | LGPP------------------GHPAGSAW>T<PDPPCPQL-----RP-----PCLSPCASRP | 944 |
KCNH5 | IQADAKHPF-------------YPIPEQAL>Q<TTLQEVKH-----ELKEDIQLLSCRMTALE | 932 |
KCNH6 | VATD------------------------KT>L<APSSEQEQ-----PEGLWP-PLASPLHPLE | 953 |
KCNH7 | VTAGSEYQR-------------PIIQLMRT>S<QPEASIKT-----DRSFSPSSQCPEFLDLE | 1116 |
KCNH8 | LSPQQPSRFCSLHSTSVCPSRESLQTRTSW>S<AHQPCLHL-----QTGGAAYTQAQLCSSNI | 954 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ---------------------------LGR>P<EGEEEGPA-----EPEEHSVRIC------- | 1226 |
CNGB3 | ---------------------------VRR>-<---TVLPR-----GTSRQSLIIS------- | 787 |
HCN1 | AVPGTGLQ-----------------AG--->-<G---RST--------------VP-QRVTLF | 842 |
HCN2 | ------------------------------>-<S---ST-------------PRLG-P----- | 850 |
HCN3 | ------------------------------>-<G---SE-------------R-LP-PSGLL- | 745 |
HCN4 | GSGGSGS----------------------->-<S---GGLG-----PPGRPYGAIPGQHVTLP | 1153 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1087D | c.3260G>A | Putative Benign | rs369564588 | SIFT: tolerated Polyphen: possibly damaging |