Paralogue Annotation for KCNH2 residue 509

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 509
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 509

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	D260N	Colour-blindness, total	High	9	11536077, 24676353, 26992781

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.

KCNH2	EEVVSHPGRIAVHYFKGW-FLIDMVAAIPF>D<LLIFGSGSEE--------------------	519
KCNH1	GEVISDPKLIRMNYLKTW-FVIDLLSCLPY>D<VINAFENVDEVSAFMGDPGKIGFADQ---I	334
KCNH3	GQVVFAPKSICLHYVTTW-FLLDVIAALPF>D<LLHAF-KVN----------------V---Y	328
KCNH4	GQVISAPRSIGLHYLATW-FFIDLIAALPF>D<LLYIF-NIT----------------V---T	330
KCNH5	GEVISDPKLIRMNYLKTW-FVIDLLSCLPY>D<IINAFENVDEG-------------------	315
KCNH6	DEVVSHPRRIAVHYFKGW-FLIDMVAAIPF>D<LLIFRTGSDE---------------T---T	369
KCNH7	EEVVSDPAKIAIHYFKGW-FLIDMVAAIPF>D<LLIFGSGSDE---------------T---T	520
KCNH8	GQVIFEARSICIHYVTTW-FIIDLIAALPF>D<LLYAF-NVT----------------V---V	324
CNGA1	GLLVKEELKLINKYKSNLQFKLDVLSLIPT>D<LLYFKLGWNY--------------------	267
CNGA2	GLLVKDTKKLRDNYIHTLQFKLDVASIIPT>D<LIYFAVDIHS--------------------	242
CNGA3	GLMVSDTNRLWQHYKTTTQFKLDVLSLVPT>D<LAYLKVGTNY--------------------	270
CNGA4	GILVVDKGRISSRYVRTWSFFLDLASLMPT>D<VVYVRLGPHT--------------------	136
CNGB1	GDIITDKKDMRNNYLKSRRFKMDLLSLLPL>D<FLYLKVGVN---------------------	758
CNGB3	GDIIVDSNELRKHYRTSTKFQLDVASIIPF>D<ICYLFFGFN---------------------	320
HCN1	SEIILDPKVIKMNYLKSW-FVVDFISSIPV>D<YIFLIVEK--GMDSEVYKTARALR-IVRFT	260
HCN2	TEIILDPEKIKKKYLRTW-FVVDFVSSIPV>D<YIFLIVEK--GIDSEVYKTARALR-IVRFT	329
HCN3	AEILLAPRAIRTRYLRTW-FLVDLISSIPV>D<YIFLVVELEPRLDAEVYKTARALR-IVRFT	213
HCN4	TEIILDPQRIKMKYLKSW-FMVDFISSIPV>D<YIFLIVET--RIDSEVYKTARALR-IVRFT	380
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D509N	c.1525G>A	Inherited Arrhythmia	LQTS	rs370637245	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430