Paralogue Annotation for KCNH2 residue 666

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 666
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 666

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	M406T	Colour-blindness, total	Medium	9	11536077

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	SEKIFSICVMLIGSLMYASIFGNVSAIIQR>L<YSGTARYHTQMLRVREFIRFHQIPNPLRQR	696
KCNH1	IEKIFAVAIMMIGSLLYATIFGNVTTIFQQ>M<YANTNRYHEMLNSVRDFLKLYQVPKGLSER	535
KCNH3	TEKIFSICTMLIGALMHAVVFGNVTAIIQR>M<YARRFLYHSRTRDLRDYIRIHRIPKPLKQR	537
KCNH4	AEKIFSICTMLIGALMHAVVFGNVTAIIQR>M<YSRRSLYHSRMKDLKDFIRVHRLPRPLKQR	511
KCNH5	VEKMFSVAMMMVGSLLYATIFGNVTTIFQQ>M<YANTNRYHEMLNNVRDFLKLYQVPKGLSER	504
KCNH6	SEKVFSICVMLIGSLMYASIFGNVSAIIQR>L<YSGTARYHTQMLRVKEFIRFHQIPNPLRQR	548
KCNH7	SEKIFSICVMLIGSLMYASIFGNVSAIIQR>L<YSGTARYHMQMLRVKEFIRFHQIPNPLRQR	699
KCNH8	AEKIFSICTMLIGALMHALVFGNVTAIIQR>M<YSRWSLYHTRTKDLKDFIRVHHLPQQLKQR	506
CNGA1	SEYVFVVVDFLIGVLIFATIVGNIGSMISN>M<NAARAEFQARIDAIKQYMHFRNVSKDMEKR	433
CNGA2	EEYLFVIFDFLIGVLIFATIVGNVGSMISN>M<NATRAEFQAKIDAVKHYMQFRKVSKGMEAK	408
CNGA3	EEYLFVVVDFLVGVLIFATIVGNVGSMISN>M<NASRAEFQAKIDSIKQYMQFRKVTKDLETR	436
CNGA4	EEYLFMVGDFLLAVMGFATIMGSMSSVIYN>M<NTADAAFYPDHALVKKYMKLQHVNRKLERR	302
CNGB1	FEIVFQLLNYFTGVFAFSVMIGQMRDVVGA>A<TAGQTYYRSCMDSTVKYMNFYKIPKSVQNR	916
CNGB3	FEIVFQLLNFFSGVFVFSSLIGQMRDVIGA>A<TANQNYFRACMDDTIAYMNNYSIPKLVQKR	478
HCN1	SDLWITMLSMIVGATCYAMFVGHATALIQS>L<DSSRRQYQEKYKQVEQYMSFHKLPADMRQK	430
HCN2	TDIWLTMLSMIVGATCYAMFIGHATALIQS>L<DSSRRQYQEKYKQVEQYMSFHKLPADFRQK	499
HCN3	PDVWLTMLSMIVGATCYAMFIGHATALIQS>L<DSSRRQYQEKYKQVEQYMSFHKLPADTRQR	383
HCN4	SDVWLTMLSMIVGATCYAMFIGHATALIQS>L<DSSRRQYQEKYKQVEQYMSFHKLPPDTRQR	550
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

There are currently no reported variants at residue 666 for KCNH2.