Paralogue Annotation for KCNH2 residue 810

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 810
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 810

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGB3L595FAchromatopsiaMedium8 15712225, 26106334

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.



KCNH2GSIEILRG-D--V--VVAILGKNDIFGEPL>N<LYAR------P----GKSNGDVRALTYCDL830
KCNH1GSLEVIQD-D--E--VVAILGKGDVFGDVF>W<KEAT------L----AQSCANVRALTYCDL669
KCNH3GSMEVLKG-G--T--VLAILGKGDLIGCEL>P<RREQ------V----VKANADVKGLTYCVL670
KCNH4GSLEVLRD-N--M--VLAILGKGDLIGADI>P<EPGQEPGLGADPNFVLKTSADVKALTYCGL654
KCNH5GSLEVIQD-D--E--VVAILGKGDVFGDIF>W<KETT------L----AHACANVRALTYCDL638
KCNH6GSIEILRD-D--V--VVAILGKNDIFGEPV>S<LHAQ------P----GKSSADVRALTYCDL682
KCNH7GSIEILKD-D--I--VVAILGKNDIFGEMV>H<LYAK------P----GKSNADVRALTYCDL833
KCNH8GSMEVLKD-S--M--VLAILGKGDLIGANL>S<IKDQ------V----IKTNADVKALTYCDL639
CNGA1GKLAVVAD-D--GVTQFVVLSDGSYFGEIS>I<LNIKGSKA--G----NRRTANIKSIGYSDL573
CNGA2GKLAVVAD-D--GVTQYALLSAGSCFGEIS>I<LNIKGSKM--G----NRRTANIRSLGYSDL548
CNGA3GKLAVVAD-D--GVTQFVVLSDGSYFGEIS>I<LNIKGSKS--G----NRRTANIRSIGYSDL576
CNGA4GQLAVVAD-D--GITQYAVLGAGLYFGEIS>I<INIKGNMS--G----NRRTANIKSLGYSDL442
CNGB1GQVQVLGGPDGKS--VLVTLKAGSVFGEIS>L<LAVGG-----G----NRRTANVVAHGFTNL1054
CNGB3GEVQVLGGPDGTK--VLVTLKAGSVFGEIS>L<LAAGG-----G----NRRTANVVAHGFANL616
HCN1GVAGVITK-S--S--KEMKLTDGSYFGEIC>L<LTKG------------RRTASVRADTYCRL561
HCN2GVVSVLTK-G--N--KEMKLSDGSYFGEIC>L<LTRG------------RRTASVRADTYCRL630
HCN3GLLSVLAR-G--A--RDTRLTDGSYFGEIC>L<LTRG------------RRTASVRADTYCRL514
HCN4GVVSVLTK-G--N--KETKLADGSYFGEIC>L<LTRG------------RRTASVRADTYCRL681
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 810 for KCNH2.