No paralogue variants have been mapped to residue 241 for KCNH2.
KCNH2 | ERRALVGPGS-----------------P-->P<RSA--PGQLPS--PRAHSLNPDASGSS--- | 264 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | DTKALIQPSK-----------------CSP>L<VNISGPLDHSSPKRQWDRLYPDMLQSS--- | 255 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | QVEDTDADSCPLMAEENPPSTVLPPPSPA->-<-KS------------------DTLIVPSSA | 507 |
CNGB3 | AAEPTGT----------------------->-<-------------------------VP--- | 99 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P241L | c.722C>T | Inherited Arrhythmia | LQTS | rs199472871 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
p.P241S | c.721C>T | Putative Benign | SIFT: Polyphen: |