No paralogue variants have been mapped to residue 1094 for KCNH2.
KCNH2 | ---------------------GPGPTSTSP>L<L-----PVSPLP-TLTLDSLSQVSQFMACE | 1118 |
KCNH1 | SF-------------YPIPEQTLQATVLEV>R<H-----ELKEDIKALNAKMTNIEKQLSEIL | 955 |
KCNH3 | P-------------CPRAS-----GEGPCP>A<STSGLLQPLCVDTGASSYCLQPPAGSVLSG | 959 |
KCNH4 | ---------------GHPAGSAWTPDPPCP>Q<L-----RP-----PCLSPCASRPPPSLQDT | 951 |
KCNH5 | PF-------------YPIPEQALQTTLQEV>K<H-----ELKEDIQLLSCRMTALEKQVAEIL | 939 |
KCNH6 | ---------------------KTLAPSSEQ>E<Q-----PEGLWP-PLASPLHPLEVQGLICG | 960 |
KCNH7 | QR-------------PIIQLMRTSQPEASI>K<T-----DRSFSPSSQCPEFLDLEKSKLKSK | 1123 |
KCNH8 | RFCSLHSTSVCPSRESLQTRTSWSAHQPCL>H<L-----QTGGAAYTQAQLCSSNITSDIWSV | 961 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | --------------------LGRPEGEEEG>P<A-----EPEEHSVRIC-------------- | 1226 |
CNGB3 | --------------------VRR----TVL>P<R-----GTSRQSLIIS-------------- | 787 |
HCN1 | Q-----------------AG----G---RS>T<--------------VP-QRVTLFRQMSSGA | 849 |
HCN2 | ------------------------S---ST>-<------------PRLG-P------------ | 850 |
HCN3 | ------------------------G---SE>-<------------R-LP-PSGLL-------A | 746 |
HCN4 | ------------------------S---GG>L<G-----PPGRPYGAIPGQHVTLPRKTSSGS | 1160 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1094M | c.3280C>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.L1094R | c.3281T>G | Putative Benign | SIFT: tolerated Polyphen: benign |