Paralogue Annotation for KCNH2 residue 667

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 667
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 667

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN1D401HEpileptic encephalopathy, early infantileMedium9 24747641, 24747641

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.



KCNH2EKIFSICVMLIGSLMYASIFGNVSAIIQRL>Y<SGTARYHTQMLRVREFIRFHQIPNPLRQRL697
KCNH1EKIFAVAIMMIGSLLYATIFGNVTTIFQQM>Y<ANTNRYHEMLNSVRDFLKLYQVPKGLSERV536
KCNH3EKIFSICTMLIGALMHAVVFGNVTAIIQRM>Y<ARRFLYHSRTRDLRDYIRIHRIPKPLKQRM538
KCNH4EKIFSICTMLIGALMHAVVFGNVTAIIQRM>Y<SRRSLYHSRMKDLKDFIRVHRLPRPLKQRM512
KCNH5EKMFSVAMMMVGSLLYATIFGNVTTIFQQM>Y<ANTNRYHEMLNNVRDFLKLYQVPKGLSERV505
KCNH6EKVFSICVMLIGSLMYASIFGNVSAIIQRL>Y<SGTARYHTQMLRVKEFIRFHQIPNPLRQRL549
KCNH7EKIFSICVMLIGSLMYASIFGNVSAIIQRL>Y<SGTARYHMQMLRVKEFIRFHQIPNPLRQRL700
KCNH8EKIFSICTMLIGALMHALVFGNVTAIIQRM>Y<SRWSLYHTRTKDLKDFIRVHHLPQQLKQRM507
CNGA1EYVFVVVDFLIGVLIFATIVGNIGSMISNM>N<AARAEFQARIDAIKQYMHFRNVSKDMEKRV434
CNGA2EYLFVIFDFLIGVLIFATIVGNVGSMISNM>N<ATRAEFQAKIDAVKHYMQFRKVSKGMEAKV409
CNGA3EYLFVVVDFLVGVLIFATIVGNVGSMISNM>N<ASRAEFQAKIDSIKQYMQFRKVTKDLETRV437
CNGA4EYLFMVGDFLLAVMGFATIMGSMSSVIYNM>N<TADAAFYPDHALVKKYMKLQHVNRKLERRV303
CNGB1EIVFQLLNYFTGVFAFSVMIGQMRDVVGAA>T<AGQTYYRSCMDSTVKYMNFYKIPKSVQNRV917
CNGB3EIVFQLLNFFSGVFVFSSLIGQMRDVIGAA>T<ANQNYFRACMDDTIAYMNNYSIPKLVQKRV479
HCN1DLWITMLSMIVGATCYAMFVGHATALIQSL>D<SSRRQYQEKYKQVEQYMSFHKLPADMRQKI431
HCN2DIWLTMLSMIVGATCYAMFIGHATALIQSL>D<SSRRQYQEKYKQVEQYMSFHKLPADFRQKI500
HCN3DVWLTMLSMIVGATCYAMFIGHATALIQSL>D<SSRRQYQEKYKQVEQYMSFHKLPADTRQRI384
HCN4DVWLTMLSMIVGATCYAMFIGHATALIQSL>D<SSRRQYQEKYKQVEQYMSFHKLPPDTRQRI551
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 667 for KCNH2.