Paralogue Annotation for KCNH2 residue 655

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 655
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 655

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1I494VTemple-Baraister syndromeHigh9 25420144, 25420144, 25420144, 25915598, 25915598

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.



KCNH2VGFGNVSPNTNSEKIFSICVMLIGSLMYAS>I<FGNVSAIIQRLYSGTARYHTQMLRVREFIR685
KCNH1VGFGNIAPSTDIEKIFAVAIMMIGSLLYAT>I<FGNVTTIFQQMYANTNRYHEMLNSVRDFLK524
KCNH3VGFGNVSANTDTEKIFSICTMLIGALMHAV>V<FGNVTAIIQRMYARRFLYHSRTRDLRDYIR526
KCNH4VGFGNVCANTDAEKIFSICTMLIGALMHAV>V<FGNVTAIIQRMYSRRSLYHSRMKDLKDFIR500
KCNH5IGFGNIAPTTDVEKMFSVAMMMVGSLLYAT>I<FGNVTTIFQQMYANTNRYHEMLNNVRDFLK493
KCNH6VGFGNVSPNTNSEKVFSICVMLIGSLMYAS>I<FGNVSAIIQRLYSGTARYHTQMLRVKEFIR537
KCNH7VGFGNVSPNTNSEKIFSICVMLIGSLMYAS>I<FGNVSAIIQRLYSGTARYHMQMLRVKEFIR688
KCNH8VGFGNVSANTDAEKIFSICTMLIGALMHAL>V<FGNVTAIIQRMYSRWSLYHTRTKDLKDFIR495
CNGA1IG-ETPPPVRDSEYVFVVVDFLIGVLIFAT>I<VGNIGSMISNMNAARAEFQARIDAIKQYMH422
CNGA2IG-ETPPPVKDEEYLFVIFDFLIGVLIFAT>I<VGNVGSMISNMNATRAEFQAKIDAVKHYMQ397
CNGA3IG-ETPPPVKDEEYLFVVVDFLVGVLIFAT>I<VGNVGSMISNMNASRAEFQAKIDSIKQYMQ425
CNGA4VG-DTPPPAREEEYLFMVGDFLLAVMGFAT>I<MGSMSSVIYNMNTADAAFYPDHALVKKYMK291
CNGB1IG-GLPDPKTLFEIVFQLLNYFTGVFAFSV>M<IGQMRDVVGAATAGQTYYRSCMDSTVKYMN905
CNGB3IG-GLPEPQTLFEIVFQLLNFFSGVFVFSS>L<IGQMRDVIGAATANQNYFRACMDDTIAYMN467
HCN1IGYGAQAPVSMSDLWITMLSMIVGATCYAM>F<VGHATALIQSLDSSRRQYQEKYKQVEQYMS419
HCN2IGYGRQAPESMTDIWLTMLSMIVGATCYAM>F<IGHATALIQSLDSSRRQYQEKYKQVEQYMS488
HCN3IGYGQQAPVGMPDVWLTMLSMIVGATCYAM>F<IGHATALIQSLDSSRRQYQEKYKQVEQYMS372
HCN4IGYGRQAPVGMSDVWLTMLSMIVGATCYAM>F<IGHATALIQSLDSSRRQYQEKYKQVEQYMS539
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 655 for KCNH2.