Paralogue Annotation for KCNH2 residue 793

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 793
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 793

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	D533H	Cone dystrophy	High	7	24903488

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	PPGDTLVHAGDLLTALYFISRGSIEILRG->D<--V--VVAILGKNDIFGEPLNLYAR-----	814
KCNH1	APGDLIYHAGESVDSLCFVVSGSLEVIQD->D<--E--VVAILGKGDVFGDVFWKEAT-----	653
KCNH3	TPGEYLIHQGDALQALYFVCSGSMEVLKG->G<--T--VLAILGKGDLIGCELPRREQ-----	654
KCNH4	APGEYLLRRGDALQAHYYVCSGSLEVLRD->N<--M--VLAILGKGDLIGADIPEPGQEPGLG	633
KCNH5	APGDLIYHAGESVDALCFVVSGSLEVIQD->D<--E--VVAILGKGDVFGDIFWKETT-----	622
KCNH6	PPGDTLVHLGDVLSTLYFISRGSIEILRD->D<--V--VVAILGKNDIFGEPVSLHAQ-----	666
KCNH7	PPGDTLVHCGDVLTALYFLSRGSIEILKD->D<--I--VVAILGKNDIFGEMVHLYAK-----	817
KCNH8	APGEYLLRQGDALQAIYFVCSGSMEVLKD->S<--M--VLAILGKGDLIGANLSIKDQ-----	623
CNGA1	SPGDYICKKGDIGREMYIIKEGKLAVVAD->D<--GVTQFVVLSDGSYFGEISILNIKGSKA-	557
CNGA2	SPGDYICRKGDIGKEMYIIKEGKLAVVAD->D<--GVTQYALLSAGSCFGEISILNIKGSKM-	532
CNGA3	SPGDYICKKGDIGKEMYIINEGKLAVVAD->D<--GVTQFVVLSDGSYFGEISILNIKGSKS-	560
CNGA4	SPGEYVCRKGDIGQEMYIIREGQLAVVAD->D<--GITQYAVLGAGLYFGEISIINIKGNMS-	426
CNGB1	LPNDYVCKKGEIGREMYIIQAGQVQVLGGP>D<GKS--VLVTLKAGSVFGEISLLAVGG----	1038
CNGB3	LPGDFVCKKGEIGKEMYIIKHGEVQVLGGP>D<GTK--VLVTLKAGSVFGEISLLAAGG----	600
HCN1	QPGDYIIREGAVGKKMYFIQHGVAGVITK->S<--S--KEMKLTDGSYFGEICLLTKG-----	547
HCN2	QPGDYIIREGTIGKKMYFIQHGVVSVLTK->G<--N--KEMKLSDGSYFGEICLLTRG-----	616
HCN3	QPGDLVVREGSVGRKMYFIQHGLLSVLAR->G<--A--RDTRLTDGSYFGEICLLTRG-----	500
HCN4	QPGDYIIREGTIGKKMYFIQHGVVSVLTK->G<--N--KETKLADGSYFGEICLLTRG-----	667
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D793N	c.2377G>A	Putative Benign			SIFT: Polyphen: