Paralogue Annotation for KCNH2 residue 745

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 745
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 745

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3D485VColour-blindness, totalMedium9 11536077

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.



KCNH2AVLKGFPECLQADICLHLNRSLLQHCKPFR>G<ATKGCLRALAMKFKTTHAPPGDTLVHAGDL775
KCNH1KVLQICPKDMRADICVHLNRKVFKEHPAFR>L<ASDGCLRALAMEFQTVHCAPGDLIYHAGES614
KCNH3ELLQSLPDELRADIAMHLHKEVL-QLPLFE>A<ASRGCLRALSLALRPAFCTPGEYLIHQGDA615
KCNH4ELLRDFPDELRADIAMHLNREIL-QLPLFG>A<ASRGCLRALSLHIKTSFCAPGEYLLRRGDA589
KCNH5KVLSICPKDMRADICVHLNRKVFNEHPAFR>L<ASDGCLRALAVEFQTIHCAPGDLIYHAGES583
KCNH6AVLKGFPECLQADICLHLHRALLQHCPAFS>G<AGKGCLRALAVKFKTTHAPPGDTLVHLGDV627
KCNH7MVLKGFPECLQADICLHLNQTLLQNCKAFR>G<ASKGCLRALAMKFKTTHAPPGDTLVHCGDV778
KCNH8ELLKDFPDELRSDITMHLNKEIL-QLSLFE>C<ASRGCLRSLSLHIKTSFCAPGEYLLRQGDA584
CNGA1EVLKYLPDKLRAEIAINVHLDTLKKVRIFA>D<CEAGLLVELVLKLQPQVYSPGDYICKKGDI512
CNGA2EILKNLPAKLRAEIAINVHLSTLKKVRIFH>D<CEAGLLVELVLKLRPQVFSPGDYICRKGDI487
CNGA3EVLKSLPDKLKAEIAINVHLDTLKKVRIFQ>D<CEAGLLVELVLKLRPTVFSPGDYICKKGDI515
CNGA4AILQHLPERLRAEVAVSVHLSTLSRVQIFQ>N<CEASLLEELVLKLQPQTYSPGEYVCRKGDI381
CNGB1ELMVQLPDKMRLDLAIDVNYNIVSKVALFQ>G<CDRQMIFDMLKRLRSVVYLPNDYVCKKGEI995
CNGB3DLLKTLPTTVQLALAIDVNFSIISKVDLFK>G<CDTQMIYDMLLRLKSVLYLPGDFVCKKGEI557
HCN1NILNELNDPLREEIVNFNCRKLVATMPLFA>N<ADPNFVTAMLSKLRFEVFQPGDYIIREGAV508
HCN2SILGELNGPLREEIVNFNCRKLVASMPLFA>N<ADPNFVTAMLTKLKFEVFQPGDYIIREGTI577
HCN3SILGELSEPLREEIINFTCRGLVAHMPLFA>H<ADPSFVTAVLTKLRFEVFQPGDLVVREGSV461
HCN4SILGELSEPLREEIINFNCRKLVASMPLFA>N<ADPNFVTSMLTKLRFEVFQPGDYIIREGTI628
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 745 for KCNH2.