Paralogue Annotation for KCNH2 residue 653

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 653
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 653

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGB3S435FAchromatopsiaMedium9 10888875, 12815043

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.



KCNH2TSVGFGNVSPNTNSEKIFSICVMLIGSLMY>A<SIFGNVSAIIQRLYSGTARYHTQMLRVREF683
KCNH1TSVGFGNIAPSTDIEKIFAVAIMMIGSLLY>A<TIFGNVTTIFQQMYANTNRYHEMLNSVRDF522
KCNH3TSVGFGNVSANTDTEKIFSICTMLIGALMH>A<VVFGNVTAIIQRMYARRFLYHSRTRDLRDY524
KCNH4TSVGFGNVCANTDAEKIFSICTMLIGALMH>A<VVFGNVTAIIQRMYSRRSLYHSRMKDLKDF498
KCNH5TTIGFGNIAPTTDVEKMFSVAMMMVGSLLY>A<TIFGNVTTIFQQMYANTNRYHEMLNNVRDF491
KCNH6TSVGFGNVSPNTNSEKVFSICVMLIGSLMY>A<SIFGNVSAIIQRLYSGTARYHTQMLRVKEF535
KCNH7TSVGFGNVSPNTNSEKIFSICVMLIGSLMY>A<SIFGNVSAIIQRLYSGTARYHMQMLRVKEF686
KCNH8TSVGFGNVSANTDAEKIFSICTMLIGALMH>A<LVFGNVTAIIQRMYSRWSLYHTRTKDLKDF493
CNGA1TTIG-ETPPPVRDSEYVFVVVDFLIGVLIF>A<TIVGNIGSMISNMNAARAEFQARIDAIKQY420
CNGA2TTIG-ETPPPVKDEEYLFVIFDFLIGVLIF>A<TIVGNVGSMISNMNATRAEFQAKIDAVKHY395
CNGA3TTIG-ETPPPVKDEEYLFVVVDFLVGVLIF>A<TIVGNVGSMISNMNASRAEFQAKIDSIKQY423
CNGA4TTVG-DTPPPAREEEYLFMVGDFLLAVMGF>A<TIMGSMSSVIYNMNTADAAFYPDHALVKKY289
CNGB1ITIG-GLPDPKTLFEIVFQLLNYFTGVFAF>S<VMIGQMRDVVGAATAGQTYYRSCMDSTVKY903
CNGB3ITIG-GLPEPQTLFEIVFQLLNFFSGVFVF>S<SLIGQMRDVIGAATANQNYFRACMDDTIAY465
HCN1LCIGYGAQAPVSMSDLWITMLSMIVGATCY>A<MFVGHATALIQSLDSSRRQYQEKYKQVEQY417
HCN2LCIGYGRQAPESMTDIWLTMLSMIVGATCY>A<MFIGHATALIQSLDSSRRQYQEKYKQVEQY486
HCN3LCIGYGQQAPVGMPDVWLTMLSMIVGATCY>A<MFIGHATALIQSLDSSRRQYQEKYKQVEQY370
HCN4LCIGYGRQAPVGMSDVWLTMLSMIVGATCY>A<MFIGHATALIQSLDSSRRQYQEKYKQVEQY537
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 653 for KCNH2.