No paralogue variants have been mapped to residue 618 for KCNH2.
KCNH2 | --------------LGGPSIKDKYVTALYF>T<FSSLTSVGFGNVSPNTNSEKIFSICVMLIG | 648 |
KCNH1 | -------S--GK-WEGGPSKNSVYISSLYF>T<MTSLTSVGFGNIAPSTDIEKIFAVAIMMIG | 487 |
KCNH3 | CSSSSEANGTGLELLGGPSLRSAYITSLYF>A<LSSLTSVGFGNVSANTDTEKIFSICTMLIG | 489 |
KCNH4 | -------------SVGGPSRRSAYIAALYF>T<LSSLTSVGFGNVCANTDAEKIFSICTMLIG | 463 |
KCNH5 | -------A--GI-WEGGPSKDSLYVSSLYF>T<MTSLTTIGFGNIAPTTDVEKMFSVAMMMVG | 456 |
KCNH6 | -------P------ASGPSVQDKYVTALYF>T<FSSLTSVGFGNVSPNTNSEKVFSICVMLIG | 500 |
KCNH7 | -------S------SSGPSIKDKYVTALYF>T<FSSLTSVGFGNVSPNTNSEKIFSICVMLIG | 651 |
KCNH8 | -------------TLGGPSIRSAYIAALYF>T<LSSLTSVGFGNVSANTDAEKIFSICTMLIG | 458 |
CNGA1 | ---------------EFGRLARKYVYSLYW>S<TLTLTTIG-ETPPPVRDSEYVFVVVDFLIG | 385 |
CNGA2 | ---------------EYGYLAREYIYCLYW>S<TLTLTTIG-ETPPPVKDEEYLFVIFDFLIG | 360 |
CNGA3 | ---------------EHGRLSRKYIYSLYW>S<TLTLTTIG-ETPPPVKDEEYLFVVVDFLVG | 388 |
CNGA4 | ---------------GFERLRRQYLYSFYF>S<TLILTTVG-DTPPPAREEEYLFMVGDFLLA | 254 |
CNGB1 | ------------------GVGNSYIRCYYF>A<VKTLITIG-GLPDPKTLFEIVFQLLNYFTG | 868 |
CNGB3 | ------------------GEGNEYLRCYYW>A<VRTLITIG-GLPEPQTLFEIVFQLLNFFSG | 430 |
HCN1 | ---------------VNDSWGKQYSYALFK>A<MSHMLCIGYGAQAPVSMSDLWITMLSMIVG | 382 |
HCN2 | ---------------VNHSWSELYSFALFK>A<MSHMLCIGYGRQAPESMTDIWLTMLSMIVG | 451 |
HCN3 | ---------------VNHSWGRQYSHALFK>A<MSHMLCIGYGQQAPVGMPDVWLTMLSMIVG | 335 |
HCN4 | ---------------VNNSWGKQYSYALFK>A<MSHMLCIGYGRQAPVGMSDVWLTMLSMIVG | 502 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T618I | c.1853C>T | Inherited Arrhythmia | SQTS | rs199472947 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | SQTS | A novel mutation in the KCNH2 gene associated with short QT syndrome. J Mol Cell Cardiol. 2011 50(3):433-41. 21130771 | ||
Inherited Arrhythmia | SQTS | Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel. PLoS One. 2012 7(12):e52451. doi: 10.1371/journal.pone.0052451. 23300672 | |||
p.T618S | c.1853C>G | Inherited Arrhythmia | LQTS | rs199472947 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 |