Paralogue Annotation for KCNH2 residue 787

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 787
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 787

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3L527RAchromatopsiaMedium9 21911670
CNGA3L527MLeber congenital amaurosisMedium9 21901789

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.



KCNH2KFKTTHAPPGDTLVHAGDLLTALYFISRGS>I<EILRG-D--V--VVAILGKNDIFGEPLNLY812
KCNH1EFQTVHCAPGDLIYHAGESVDSLCFVVSGS>L<EVIQD-D--E--VVAILGKGDVFGDVFWKE651
KCNH3ALRPAFCTPGEYLIHQGDALQALYFVCSGS>M<EVLKG-G--T--VLAILGKGDLIGCELPRR652
KCNH4HIKTSFCAPGEYLLRRGDALQAHYYVCSGS>L<EVLRD-N--M--VLAILGKGDLIGADIPEP626
KCNH5EFQTIHCAPGDLIYHAGESVDALCFVVSGS>L<EVIQD-D--E--VVAILGKGDVFGDIFWKE620
KCNH6KFKTTHAPPGDTLVHLGDVLSTLYFISRGS>I<EILRD-D--V--VVAILGKNDIFGEPVSLH664
KCNH7KFKTTHAPPGDTLVHCGDVLTALYFLSRGS>I<EILKD-D--I--VVAILGKNDIFGEMVHLY815
KCNH8HIKTSFCAPGEYLLRQGDALQAIYFVCSGS>M<EVLKD-S--M--VLAILGKGDLIGANLSIK621
CNGA1KLQPQVYSPGDYICKKGDIGREMYIIKEGK>L<AVVAD-D--GVTQFVVLSDGSYFGEISILN551
CNGA2KLRPQVFSPGDYICRKGDIGKEMYIIKEGK>L<AVVAD-D--GVTQYALLSAGSCFGEISILN526
CNGA3KLRPTVFSPGDYICKKGDIGKEMYIINEGK>L<AVVAD-D--GVTQFVVLSDGSYFGEISILN554
CNGA4KLQPQTYSPGEYVCRKGDIGQEMYIIREGQ>L<AVVAD-D--GITQYAVLGAGLYFGEISIIN420
CNGB1RLRSVVYLPNDYVCKKGEIGREMYIIQAGQ>V<QVLGGPDGKS--VLVTLKAGSVFGEISLLA1035
CNGB3RLKSVLYLPGDFVCKKGEIGKEMYIIKHGE>V<QVLGGPDGTK--VLVTLKAGSVFGEISLLA597
HCN1KLRFEVFQPGDYIIREGAVGKKMYFIQHGV>A<GVITK-S--S--KEMKLTDGSYFGEICLLT545
HCN2KLKFEVFQPGDYIIREGTIGKKMYFIQHGV>V<SVLTK-G--N--KEMKLSDGSYFGEICLLT614
HCN3KLRFEVFQPGDLVVREGSVGRKMYFIQHGL>L<SVLAR-G--A--RDTRLTDGSYFGEICLLT498
HCN4KLRFEVFQPGDYIIREGTIGKKMYFIQHGV>V<SVLTK-G--N--KETKLADGSYFGEICLLT665
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ile787Asnc.2360T>A UnknownSIFT:
Polyphen: