No paralogue variants have been mapped to residue 1097 for KCNH2.
| KCNH2 | -------------GPGPTSTSPLL-----P>V<SPLP-TLTLDSLSQVSQFMACEELPPGAPE | 1126 |
| KCNH1 | -------YPIPEQTLQATVLEVRH-----E>L<KEDIKALNAKMTNIEKQLSEILRILTSRRS | 963 |
| KCNH3 | ------CPRAS-----GEGPCPASTSGLLQ>P<LCVDTGASSYCLQPPAGSVLSGTWPHPRPG | 967 |
| KCNH4 | -------GHPAGSAWTPDPPCPQL-----R>P<-----PCLSPCASRPPPSLQDTTLAEVH-C | 958 |
| KCNH5 | -------YPIPEQALQTTLQEVKH-----E>L<KEDIQLLSCRMTALEKQVAEILKILSEKSV | 947 |
| KCNH6 | -------------KTLAPSSEQEQ-----P>E<GLWP-PLASPLHPLEVQGLICG-------- | 960 |
| KCNH7 | -------PIIQLMRTSQPEASIKT-----D>R<SFSPSSQCPEFLDLEKSKLKSKESLSSGVH | 1131 |
| KCNH8 | SVCPSRESLQTRTSWSAHQPCLHL-----Q>T<GGAAYTQAQLCSSNITSDIWSVDPSSVGSS | 969 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ------------LGRPEGEEEGPA-----E>P<EEHSVRIC---------------------- | 1226 |
| CNGB3 | ------------VRR----TVLPR-----G>T<SRQSLIIS---------------------- | 787 |
| HCN1 | ----------AG----G---RST------->-<------VP-QRVTLFRQMSSGAIP------ | 851 |
| HCN2 | ----------------S---ST-------->-<----PRLG-P-----------------TP- | 852 |
| HCN3 | ----------------G---SE-------->-<----R-LP-PSGLL-------AKP------ | 748 |
| HCN4 | ----------------S---GGLG-----P>P<GRPYGAIPGQHVTLPRKTSSGSLPPPLSLF | 1168 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V1097I | c.3289G>A | Putative Benign | rs199473030 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| p.V1097G | c.3290T>G | Putative Benign | SIFT: deleterious Polyphen: benign | ||