Paralogue Annotation for KCNH2 residue 664

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 664
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 664

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNH1	Q503R	Temple-Baraister syndrome	High	9	25420144, 25420144, 25420144

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	TNSEKIFSICVMLIGSLMYASIFGNVSAII>Q<RLYSGTARYHTQMLRVREFIRFHQIPNPLR	694
KCNH1	TDIEKIFAVAIMMIGSLLYATIFGNVTTIF>Q<QMYANTNRYHEMLNSVRDFLKLYQVPKGLS	533
KCNH3	TDTEKIFSICTMLIGALMHAVVFGNVTAII>Q<RMYARRFLYHSRTRDLRDYIRIHRIPKPLK	535
KCNH4	TDAEKIFSICTMLIGALMHAVVFGNVTAII>Q<RMYSRRSLYHSRMKDLKDFIRVHRLPRPLK	509
KCNH5	TDVEKMFSVAMMMVGSLLYATIFGNVTTIF>Q<QMYANTNRYHEMLNNVRDFLKLYQVPKGLS	502
KCNH6	TNSEKVFSICVMLIGSLMYASIFGNVSAII>Q<RLYSGTARYHTQMLRVKEFIRFHQIPNPLR	546
KCNH7	TNSEKIFSICVMLIGSLMYASIFGNVSAII>Q<RLYSGTARYHMQMLRVKEFIRFHQIPNPLR	697
KCNH8	TDAEKIFSICTMLIGALMHALVFGNVTAII>Q<RMYSRWSLYHTRTKDLKDFIRVHHLPQQLK	504
CNGA1	RDSEYVFVVVDFLIGVLIFATIVGNIGSMI>S<NMNAARAEFQARIDAIKQYMHFRNVSKDME	431
CNGA2	KDEEYLFVIFDFLIGVLIFATIVGNVGSMI>S<NMNATRAEFQAKIDAVKHYMQFRKVSKGME	406
CNGA3	KDEEYLFVVVDFLVGVLIFATIVGNVGSMI>S<NMNASRAEFQAKIDSIKQYMQFRKVTKDLE	434
CNGA4	REEEYLFMVGDFLLAVMGFATIMGSMSSVI>Y<NMNTADAAFYPDHALVKKYMKLQHVNRKLE	300
CNGB1	TLFEIVFQLLNYFTGVFAFSVMIGQMRDVV>G<AATAGQTYYRSCMDSTVKYMNFYKIPKSVQ	914
CNGB3	TLFEIVFQLLNFFSGVFVFSSLIGQMRDVI>G<AATANQNYFRACMDDTIAYMNNYSIPKLVQ	476
HCN1	SMSDLWITMLSMIVGATCYAMFVGHATALI>Q<SLDSSRRQYQEKYKQVEQYMSFHKLPADMR	428
HCN2	SMTDIWLTMLSMIVGATCYAMFIGHATALI>Q<SLDSSRRQYQEKYKQVEQYMSFHKLPADFR	497
HCN3	GMPDVWLTMLSMIVGATCYAMFIGHATALI>Q<SLDSSRRQYQEKYKQVEQYMSFHKLPADTR	381
HCN4	GMSDVWLTMLSMIVGATCYAMFIGHATALI>Q<SLDSSRRQYQEKYKQVEQYMSFHKLPPDTR	548
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

There are currently no reported variants at residue 664 for KCNH2.