No paralogue variants have been mapped to residue 615 for KCNH2.
| KCNH2 | -----------------LGGPSIKDKYVTA>L<YFTFSSLTSVGFGNVSPNTNSEKIFSICVM | 645 |
| KCNH1 | ----------S--GK-WEGGPSKNSVYISS>L<YFTMTSLTSVGFGNIAPSTDIEKIFAVAIM | 484 |
| KCNH3 | SDNCSSSSEANGTGLELLGGPSLRSAYITS>L<YFALSSLTSVGFGNVSANTDTEKIFSICTM | 486 |
| KCNH4 | ----------------SVGGPSRRSAYIAA>L<YFTLSSLTSVGFGNVCANTDAEKIFSICTM | 460 |
| KCNH5 | ----------A--GI-WEGGPSKDSLYVSS>L<YFTMTSLTTIGFGNIAPTTDVEKMFSVAMM | 453 |
| KCNH6 | ----------P------ASGPSVQDKYVTA>L<YFTFSSLTSVGFGNVSPNTNSEKVFSICVM | 497 |
| KCNH7 | ----------S------SSGPSIKDKYVTA>L<YFTFSSLTSVGFGNVSPNTNSEKIFSICVM | 648 |
| KCNH8 | ----------------TLGGPSIRSAYIAA>L<YFTLSSLTSVGFGNVSANTDAEKIFSICTM | 455 |
| CNGA1 | ------------------EFGRLARKYVYS>L<YWSTLTLTTIG-ETPPPVRDSEYVFVVVDF | 382 |
| CNGA2 | ------------------EYGYLAREYIYC>L<YWSTLTLTTIG-ETPPPVKDEEYLFVIFDF | 357 |
| CNGA3 | ------------------EHGRLSRKYIYS>L<YWSTLTLTTIG-ETPPPVKDEEYLFVVVDF | 385 |
| CNGA4 | ------------------GFERLRRQYLYS>F<YFSTLILTTVG-DTPPPAREEEYLFMVGDF | 251 |
| CNGB1 | ---------------------GVGNSYIRC>Y<YFAVKTLITIG-GLPDPKTLFEIVFQLLNY | 865 |
| CNGB3 | ---------------------GEGNEYLRC>Y<YWAVRTLITIG-GLPEPQTLFEIVFQLLNF | 427 |
| HCN1 | ------------------VNDSWGKQYSYA>L<FKAMSHMLCIGYGAQAPVSMSDLWITMLSM | 379 |
| HCN2 | ------------------VNHSWSELYSFA>L<FKAMSHMLCIGYGRQAPESMTDIWLTMLSM | 448 |
| HCN3 | ------------------VNHSWGRQYSHA>L<FKAMSHMLCIGYGQQAPVGMPDVWLTMLSM | 332 |
| HCN4 | ------------------VNNSWGKQYSYA>L<FKAMSHMLCIGYGRQAPVGMSDVWLTMLSM | 499 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L615F | c.1843C>T | Inherited Arrhythmia | LQTS | rs199472945 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.L615V | c.1843C>G | Inherited Arrhythmia | LQTS | rs199472945 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||