No paralogue variants have been mapped to residue 112 for KCNH2.
KCNH2 | DGS--------------------CFLCLVD>V<V----------------------------- | 113 |
KCNH1 | NRT--------------------PVWFFVK>I<A----------------------------- | 114 |
KCNH3 | SGL--------------------PFWCLLD>V<I----------------------------- | 114 |
KCNH4 | DGS--------------------AFWCLLD>M<M----------------------------- | 114 |
KCNH5 | NRT--------------------PVWFYMQ>I<A----------------------------- | 112 |
KCNH6 | DAS--------------------SFRCLVD>V<V----------------------------- | 113 |
KCNH7 | NGS--------------------TFICNTH>I<I----------------------------- | 113 |
KCNH8 | NGS--------------------PFWCLLD>I<V----------------------------- | 114 |
CNGA1 | GSF--------------------SYKSLRK>G<-G---------------------------- | 75 |
CNGA2 | ADV--------------------D-APQQG>R<SG---------------------------- | 65 |
CNGA3 | ADS--------------------GQGSFTG>Q<-G---------------------------- | 69 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | KSSEVWRDEPAVATGAASDPAPPGRPQEMG>P<KLQARETPSLPTPIPLQPKEEPKEAPAPEP | 235 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V112M | c.334G>A | Putative Benign | SIFT: Polyphen: |