Paralogue Annotation for KCNH2 residue 729

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 729
Reference Amino Acid: C - Cysteine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 729

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3A469TAchromatopsiaMedium9 18521937, 20981092

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.



KCNH2EYFQHAWSYTNGIDMNAVLKGFPECLQADI>C<LHLNRSLLQHCKPFRGATKGCLRALAMKFK759
KCNH1DYIVSTWSMSRGIDTEKVLQICPKDMRADI>C<VHLNRKVFKEHPAFRLASDGCLRALAMEFQ598
KCNH3EYFQATWAVNNGIDTTELLQSLPDELRADI>A<MHLHKEVL-QLPLFEAASRGCLRALSLALR599
KCNH4EYFQTTWAVNSGIDANELLRDFPDELRADI>A<MHLNREIL-QLPLFGAASRGCLRALSLHIK573
KCNH5DYIVSTWSMSKGIDTEKVLSICPKDMRADI>C<VHLNRKVFNEHPAFRLASDGCLRALAVEFQ567
KCNH6EYFQHAWSYTNGIDMNAVLKGFPECLQADI>C<LHLHRALLQHCPAFSGAGKGCLRALAVKFK611
KCNH7EYFQHAWTYTNGIDMNMVLKGFPECLQADI>C<LHLNQTLLQNCKAFRGASKGCLRALAMKFK762
KCNH8EYFQTTWSVNNGIDSNELLKDFPDELRSDI>T<MHLNKEIL-QLSLFECASRGCLRSLSLHIK568
CNGA1KWFDYLWTNKKTVDEKEVLKYLPDKLRAEI>A<INVHLDTLKKVRIFADCEAGLLVELVLKLQ496
CNGA2RWFDYLWTNKKTVDEREILKNLPAKLRAEI>A<INVHLSTLKKVRIFHDCEAGLLVELVLKLR471
CNGA3RWFDYLWANKKTVDEKEVLKSLPDKLKAEI>A<INVHLDTLKKVRIFQDCEAGLLVELVLKLR499
CNGA4DWYQHLQINKKMTNEVAILQHLPERLRAEV>A<VSVHLSTLSRVQIFQNCEASLLEELVLKLQ365
CNGB1TWYEYTWHSQGMLDESELMVQLPDKMRLDL>A<IDVNYNIVSKVALFQGCDRQMIFDMLKRLR979
CNGB3TWYEYTWDSQRMLDESDLLKTLPTTVQLAL>A<IDVNFSIISKVDLFKGCDTQMIYDMLLRLK541
HCN1DYYEHRYQG-KIFDEENILNELNDPLREEI>V<NFNCRKLVATMPLFANADPNFVTAMLSKLR492
HCN2DYYEHRYQG-KMFDEDSILGELNGPLREEI>V<NFNCRKLVASMPLFANADPNFVTAMLTKLK561
HCN3EYYEHRYQG-KMFDEESILGELSEPLREEI>I<NFTCRGLVAHMPLFAHADPSFVTAVLTKLR445
HCN4DYYEHRYQG-KMFDEESILGELSEPLREEI>I<NFNCRKLVASMPLFANADPNFVTSMLTKLR612
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 729 for KCNH2.