Paralogue Annotation for KCNH2 residue 724

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 724
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 724

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3L464RAchromatopsiaHigh9 24504161

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.



KCNH2RQRLEEYFQHAWSYTNGIDMNAVLKGFPEC>L<QADICLHLNRSLLQHCKPFRGATKGCLRAL754
KCNH1SERVMDYIVSTWSMSRGIDTEKVLQICPKD>M<RADICVHLNRKVFKEHPAFRLASDGCLRAL593
KCNH3KQRMLEYFQATWAVNNGIDTTELLQSLPDE>L<RADIAMHLHKEVL-QLPLFEAASRGCLRAL594
KCNH4KQRMLEYFQTTWAVNSGIDANELLRDFPDE>L<RADIAMHLNREIL-QLPLFGAASRGCLRAL568
KCNH5SERVMDYIVSTWSMSKGIDTEKVLSICPKD>M<RADICVHLNRKVFNEHPAFRLASDGCLRAL562
KCNH6RQRLEEYFQHAWSYTNGIDMNAVLKGFPEC>L<QADICLHLHRALLQHCPAFSGAGKGCLRAL606
KCNH7RQRLEEYFQHAWTYTNGIDMNMVLKGFPEC>L<QADICLHLNQTLLQNCKAFRGASKGCLRAL757
KCNH8KQRMLEYFQTTWSVNNGIDSNELLKDFPDE>L<RSDITMHLNKEIL-QLSLFECASRGCLRSL563
CNGA1EKRVIKWFDYLWTNKKTVDEKEVLKYLPDK>L<RAEIAINVHLDTLKKVRIFADCEAGLLVEL491
CNGA2EAKVIRWFDYLWTNKKTVDEREILKNLPAK>L<RAEIAINVHLSTLKKVRIFHDCEAGLLVEL466
CNGA3ETRVIRWFDYLWANKKTVDEKEVLKSLPDK>L<KAEIAINVHLDTLKKVRIFQDCEAGLLVEL494
CNGA4ERRVIDWYQHLQINKKMTNEVAILQHLPER>L<RAEVAVSVHLSTLSRVQIFQNCEASLLEEL360
CNGB1QNRVKTWYEYTWHSQGMLDESELMVQLPDK>M<RLDLAIDVNYNIVSKVALFQGCDRQMIFDM974
CNGB3QKRVRTWYEYTWDSQRMLDESDLLKTLPTT>V<QLALAIDVNFSIISKVDLFKGCDTQMIYDM536
HCN1RQKIHDYYEHRYQG-KIFDEENILNELNDP>L<REEIVNFNCRKLVATMPLFANADPNFVTAM487
HCN2RQKIHDYYEHRYQG-KMFDEDSILGELNGP>L<REEIVNFNCRKLVASMPLFANADPNFVTAM556
HCN3RQRIHEYYEHRYQG-KMFDEESILGELSEP>L<REEIINFTCRGLVAHMPLFAHADPSFVTAV440
HCN4RQRIHDYYEHRYQG-KMFDEESILGELSEP>L<REEIINFNCRKLVASMPLFANADPNFVTSM607
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 724 for KCNH2.