Paralogue Annotation for KCNH2 residue 636

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 636
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 636

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3E376KAchromatopsiaMedium9 20506298

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.



KCNH2SIKDKYVTALYFTFSSLTSVGFGNVSPNTN>S<EKIFSICVMLIGSLMYASIFGNVSAIIQRL666
KCNH1SKNSVYISSLYFTMTSLTSVGFGNIAPSTD>I<EKIFAVAIMMIGSLLYATIFGNVTTIFQQM505
KCNH3SLRSAYITSLYFALSSLTSVGFGNVSANTD>T<EKIFSICTMLIGALMHAVVFGNVTAIIQRM507
KCNH4SRRSAYIAALYFTLSSLTSVGFGNVCANTD>A<EKIFSICTMLIGALMHAVVFGNVTAIIQRM481
KCNH5SKDSLYVSSLYFTMTSLTTIGFGNIAPTTD>V<EKMFSVAMMMVGSLLYATIFGNVTTIFQQM474
KCNH6SVQDKYVTALYFTFSSLTSVGFGNVSPNTN>S<EKVFSICVMLIGSLMYASIFGNVSAIIQRL518
KCNH7SIKDKYVTALYFTFSSLTSVGFGNVSPNTN>S<EKIFSICVMLIGSLMYASIFGNVSAIIQRL669
KCNH8SIRSAYIAALYFTLSSLTSVGFGNVSANTD>A<EKIFSICTMLIGALMHALVFGNVTAIIQRM476
CNGA1RLARKYVYSLYWSTLTLTTIG-ETPPPVRD>S<EYVFVVVDFLIGVLIFATIVGNIGSMISNM403
CNGA2YLAREYIYCLYWSTLTLTTIG-ETPPPVKD>E<EYLFVIFDFLIGVLIFATIVGNVGSMISNM378
CNGA3RLSRKYIYSLYWSTLTLTTIG-ETPPPVKD>E<EYLFVVVDFLVGVLIFATIVGNVGSMISNM406
CNGA4RLRRQYLYSFYFSTLILTTVG-DTPPPARE>E<EYLFMVGDFLLAVMGFATIMGSMSSVIYNM272
CNGB1GVGNSYIRCYYFAVKTLITIG-GLPDPKTL>F<EIVFQLLNYFTGVFAFSVMIGQMRDVVGAA886
CNGB3GEGNEYLRCYYWAVRTLITIG-GLPEPQTL>F<EIVFQLLNFFSGVFVFSSLIGQMRDVIGAA448
HCN1SWGKQYSYALFKAMSHMLCIGYGAQAPVSM>S<DLWITMLSMIVGATCYAMFVGHATALIQSL400
HCN2SWSELYSFALFKAMSHMLCIGYGRQAPESM>T<DIWLTMLSMIVGATCYAMFIGHATALIQSL469
HCN3SWGRQYSHALFKAMSHMLCIGYGQQAPVGM>P<DVWLTMLSMIVGATCYAMFIGHATALIQSL353
HCN4SWGKQYSYALFKAMSHMLCIGYGRQAPVGM>S<DVWLTMLSMIVGATCYAMFIGHATALIQSL520
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 636 for KCNH2.