No paralogue variants have been mapped to residue 654 for KCNH2.
KCNH2 | SVGFGNVSPNTNSEKIFSICVMLIGSLMYA>S<IFGNVSAIIQRLYSGTARYHTQMLRVREFI | 684 |
KCNH1 | SVGFGNIAPSTDIEKIFAVAIMMIGSLLYA>T<IFGNVTTIFQQMYANTNRYHEMLNSVRDFL | 523 |
KCNH3 | SVGFGNVSANTDTEKIFSICTMLIGALMHA>V<VFGNVTAIIQRMYARRFLYHSRTRDLRDYI | 525 |
KCNH4 | SVGFGNVCANTDAEKIFSICTMLIGALMHA>V<VFGNVTAIIQRMYSRRSLYHSRMKDLKDFI | 499 |
KCNH5 | TIGFGNIAPTTDVEKMFSVAMMMVGSLLYA>T<IFGNVTTIFQQMYANTNRYHEMLNNVRDFL | 492 |
KCNH6 | SVGFGNVSPNTNSEKVFSICVMLIGSLMYA>S<IFGNVSAIIQRLYSGTARYHTQMLRVKEFI | 536 |
KCNH7 | SVGFGNVSPNTNSEKIFSICVMLIGSLMYA>S<IFGNVSAIIQRLYSGTARYHMQMLRVKEFI | 687 |
KCNH8 | SVGFGNVSANTDAEKIFSICTMLIGALMHA>L<VFGNVTAIIQRMYSRWSLYHTRTKDLKDFI | 494 |
CNGA1 | TIG-ETPPPVRDSEYVFVVVDFLIGVLIFA>T<IVGNIGSMISNMNAARAEFQARIDAIKQYM | 421 |
CNGA2 | TIG-ETPPPVKDEEYLFVIFDFLIGVLIFA>T<IVGNVGSMISNMNATRAEFQAKIDAVKHYM | 396 |
CNGA3 | TIG-ETPPPVKDEEYLFVVVDFLVGVLIFA>T<IVGNVGSMISNMNASRAEFQAKIDSIKQYM | 424 |
CNGA4 | TVG-DTPPPAREEEYLFMVGDFLLAVMGFA>T<IMGSMSSVIYNMNTADAAFYPDHALVKKYM | 290 |
CNGB1 | TIG-GLPDPKTLFEIVFQLLNYFTGVFAFS>V<MIGQMRDVVGAATAGQTYYRSCMDSTVKYM | 904 |
CNGB3 | TIG-GLPEPQTLFEIVFQLLNFFSGVFVFS>S<LIGQMRDVIGAATANQNYFRACMDDTIAYM | 466 |
HCN1 | CIGYGAQAPVSMSDLWITMLSMIVGATCYA>M<FVGHATALIQSLDSSRRQYQEKYKQVEQYM | 418 |
HCN2 | CIGYGRQAPESMTDIWLTMLSMIVGATCYA>M<FIGHATALIQSLDSSRRQYQEKYKQVEQYM | 487 |
HCN3 | CIGYGQQAPVGMPDVWLTMLSMIVGATCYA>M<FIGHATALIQSLDSSRRQYQEKYKQVEQYM | 371 |
HCN4 | CIGYGRQAPVGMSDVWLTMLSMIVGATCYA>M<FIGHATALIQSLDSSRRQYQEKYKQVEQYM | 538 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S654G | c.1960A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||
Inherited Arrhythmia | LQTS | Polygenic Case of Long QT Syndrome Confirmed through Functional Characterization Informs the Interpretation of Genetic Screening Results. HeartRhythm Case Rep. 2015 1(4):201-205. 26213684 |