Paralogue Annotation for KCNH2 residue 648

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 648
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 648

No paralogue variants have been mapped to residue 648 for KCNH2.

KCNH2	TFSSLTSVGFGNVSPNTNSEKIFSICVMLI>G<SLMYASIFGNVSAIIQRLYSGTARYHTQML	678
KCNH1	TMTSLTSVGFGNIAPSTDIEKIFAVAIMMI>G<SLLYATIFGNVTTIFQQMYANTNRYHEMLN	517
KCNH3	ALSSLTSVGFGNVSANTDTEKIFSICTMLI>G<ALMHAVVFGNVTAIIQRMYARRFLYHSRTR	519
KCNH4	TLSSLTSVGFGNVCANTDAEKIFSICTMLI>G<ALMHAVVFGNVTAIIQRMYSRRSLYHSRMK	493
KCNH5	TMTSLTTIGFGNIAPTTDVEKMFSVAMMMV>G<SLLYATIFGNVTTIFQQMYANTNRYHEMLN	486
KCNH6	TFSSLTSVGFGNVSPNTNSEKVFSICVMLI>G<SLMYASIFGNVSAIIQRLYSGTARYHTQML	530
KCNH7	TFSSLTSVGFGNVSPNTNSEKIFSICVMLI>G<SLMYASIFGNVSAIIQRLYSGTARYHMQML	681
KCNH8	TLSSLTSVGFGNVSANTDAEKIFSICTMLI>G<ALMHALVFGNVTAIIQRMYSRWSLYHTRTK	488
CNGA1	STLTLTTIG-ETPPPVRDSEYVFVVVDFLI>G<VLIFATIVGNIGSMISNMNAARAEFQARID	415
CNGA2	STLTLTTIG-ETPPPVKDEEYLFVIFDFLI>G<VLIFATIVGNVGSMISNMNATRAEFQAKID	390
CNGA3	STLTLTTIG-ETPPPVKDEEYLFVVVDFLV>G<VLIFATIVGNVGSMISNMNASRAEFQAKID	418
CNGA4	STLILTTVG-DTPPPAREEEYLFMVGDFLL>A<VMGFATIMGSMSSVIYNMNTADAAFYPDHA	284
CNGB1	AVKTLITIG-GLPDPKTLFEIVFQLLNYFT>G<VFAFSVMIGQMRDVVGAATAGQTYYRSCMD	898
CNGB3	AVRTLITIG-GLPEPQTLFEIVFQLLNFFS>G<VFVFSSLIGQMRDVIGAATANQNYFRACMD	460
HCN1	AMSHMLCIGYGAQAPVSMSDLWITMLSMIV>G<ATCYAMFVGHATALIQSLDSSRRQYQEKYK	412
HCN2	AMSHMLCIGYGRQAPESMTDIWLTMLSMIV>G<ATCYAMFIGHATALIQSLDSSRRQYQEKYK	481
HCN3	AMSHMLCIGYGQQAPVGMPDVWLTMLSMIV>G<ATCYAMFIGHATALIQSLDSSRRQYQEKYK	365
HCN4	AMSHMLCIGYGRQAPVGMSDVWLTMLSMIV>G<ATCYAMFIGHATALIQSLDSSRRQYQEKYK	532
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G648S	c.1942G>A	Inherited Arrhythmia	LQTS	rs199472975	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
p.Gly648Asp	c.1943G>A	Unknown			SIFT: Polyphen: