No paralogue variants have been mapped to residue 95 for KCNH2.
KCNH2 | ---------------GAEE-R-------KV>E<-IAFYRK-----------DGS--------- | 104 |
KCNH1 | ---------------NYEM-N-------SF>E<-ILMYKK-----------NRT--------- | 105 |
KCNH3 | ---------------EHKE-F-------KA>E<-LILYRK-----------SGL--------- | 105 |
KCNH4 | ---------------GHQE-H-------RA>E<-ICFYRK-----------DGS--------- | 105 |
KCNH5 | ---------------NYES-N-------CF>E<-VLLYKK-----------NRT--------- | 103 |
KCNH6 | ---------------GAEE-C-------KV>D<-ILYYRK-----------DAS--------- | 104 |
KCNH7 | ---------------GSEE-R-------KV>E<-VTYYHK-----------NGS--------- | 104 |
KCNH8 | ---------------EKTE-F-------KG>E<-IMFYKK-----------NGS--------- | 105 |
CNGA1 | ---------------EDDD-SASTSEESEN>E<N-PHA-R-----------GSF--------- | 66 |
CNGA2 | ---------------AADDDTSSE------>-<--LQR-L-----------ADV--------- | 56 |
CNGA3 | ---------------SSEE-TSSVLQPGIA>M<E-TRG-L-----------ADS--------- | 60 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ---------------AQDT-R-------PG>L<RLLLWLEQNLERVLPQPPKSSEVWRDEPAV | 186 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | AAEKRLGTPPGGGGAGAKE-H-------GN>S<-VCFKVD----------------------- | 62 |
HCN2 | GECGRGEPQCSPAGPEGPA-R-------GP>K<-VSFSCR----------------------- | 128 |
HCN3 | ------------------------------>-<--APPPA----------------------- | 30 |
HCN4 | ------------------------------>-<---ASCE----------------------- | 180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E95G | c.284A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067 | ||
p.E95K | c.283G>A | Putative Benign | SIFT: Polyphen: | ||
p.Glu95Ala | c.284A>C | Unknown | SIFT: Polyphen: |