Paralogue Annotation for KCNH2 residue 647

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 647
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 647

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA1I384TRetinitis pigmentosa ?High9 22164218

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.



KCNH2FTFSSLTSVGFGNVSPNTNSEKIFSICVML>I<GSLMYASIFGNVSAIIQRLYSGTARYHTQM677
KCNH1FTMTSLTSVGFGNIAPSTDIEKIFAVAIMM>I<GSLLYATIFGNVTTIFQQMYANTNRYHEML516
KCNH3FALSSLTSVGFGNVSANTDTEKIFSICTML>I<GALMHAVVFGNVTAIIQRMYARRFLYHSRT518
KCNH4FTLSSLTSVGFGNVCANTDAEKIFSICTML>I<GALMHAVVFGNVTAIIQRMYSRRSLYHSRM492
KCNH5FTMTSLTTIGFGNIAPTTDVEKMFSVAMMM>V<GSLLYATIFGNVTTIFQQMYANTNRYHEML485
KCNH6FTFSSLTSVGFGNVSPNTNSEKVFSICVML>I<GSLMYASIFGNVSAIIQRLYSGTARYHTQM529
KCNH7FTFSSLTSVGFGNVSPNTNSEKIFSICVML>I<GSLMYASIFGNVSAIIQRLYSGTARYHMQM680
KCNH8FTLSSLTSVGFGNVSANTDAEKIFSICTML>I<GALMHALVFGNVTAIIQRMYSRWSLYHTRT487
CNGA1WSTLTLTTIG-ETPPPVRDSEYVFVVVDFL>I<GVLIFATIVGNIGSMISNMNAARAEFQARI414
CNGA2WSTLTLTTIG-ETPPPVKDEEYLFVIFDFL>I<GVLIFATIVGNVGSMISNMNATRAEFQAKI389
CNGA3WSTLTLTTIG-ETPPPVKDEEYLFVVVDFL>V<GVLIFATIVGNVGSMISNMNASRAEFQAKI417
CNGA4FSTLILTTVG-DTPPPAREEEYLFMVGDFL>L<AVMGFATIMGSMSSVIYNMNTADAAFYPDH283
CNGB1FAVKTLITIG-GLPDPKTLFEIVFQLLNYF>T<GVFAFSVMIGQMRDVVGAATAGQTYYRSCM897
CNGB3WAVRTLITIG-GLPEPQTLFEIVFQLLNFF>S<GVFVFSSLIGQMRDVIGAATANQNYFRACM459
HCN1KAMSHMLCIGYGAQAPVSMSDLWITMLSMI>V<GATCYAMFVGHATALIQSLDSSRRQYQEKY411
HCN2KAMSHMLCIGYGRQAPESMTDIWLTMLSMI>V<GATCYAMFIGHATALIQSLDSSRRQYQEKY480
HCN3KAMSHMLCIGYGQQAPVGMPDVWLTMLSMI>V<GATCYAMFIGHATALIQSLDSSRRQYQEKY364
HCN4KAMSHMLCIGYGRQAPVGMSDVWLTMLSMI>V<GATCYAMFIGHATALIQSLDSSRRQYQEKY531
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 647 for KCNH2.