Paralogue Annotation for KCNH2 residue 824

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 824
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 824

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3S570IAchromatopsia ?Medium9 20574029
CNGA3S570NCone dystrophyMedium9 24903488

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.



KCNH2IFGEPLNLYAR------P----GKSNGDVR>A<LTYCDLHKIHRDDLLEVLDMYPEFSDHFWS854
KCNH1VFGDVFWKEAT------L----AQSCANVR>A<LTYCDLHVIKRDALQKVLEFYTAFSHSFSR693
KCNH3LIGCELPRREQ------V----VKANADVK>G<LTYCVLQCLQLAGLHDSLALYPEFAPRFSR694
KCNH4LIGADIPEPGQEPGLGADPNFVLKTSADVK>A<LTYCGLQQLSSRGLAEVLRLYPEYGAAFRA678
KCNH5VFGDIFWKETT------L----AHACANVR>A<LTYCDLHIIKREALLKVLDFYTAFANSFSR662
KCNH6IFGEPVSLHAQ------P----GKSSADVR>A<LTYCDLHKIQRADLLEVLDMYPAFAESFWS706
KCNH7IFGEMVHLYAK------P----GKSNADVR>A<LTYCDLHKIQREDLLEVLDMYPEFSDHFLT857
KCNH8LIGANLSIKDQ------V----IKTNADVK>A<LTYCDLQCIILKGLFEVLDLYPEYAHKFVE663
CNGA1YFGEISILNIKGSKA--G----NRRTANIK>S<IGYSDLFCLSKDDLMEALTEYPDAKTMLEE597
CNGA2CFGEISILNIKGSKM--G----NRRTANIR>S<LGYSDLFCLSKDDLMEAVTEYPDAKKVLEE572
CNGA3YFGEISILNIKGSKS--G----NRRTANIR>S<IGYSDLFCLSKDDLMEALTEYPEAKKALEE600
CNGA4YFGEISIINIKGNMS--G----NRRTANIK>S<LGYSDLFCLSKEDLREVLSEYPQAQTIMEE466
CNGB1VFGEISLLAVGG-----G----NRRTANVV>A<HGFTNLFILDKKDLNEILVHYPESQKLLRK1078
CNGB3VFGEISLLAAGG-----G----NRRTANVV>A<HGFANLLTLDKKTLQEILVHYPDSERILMK640
HCN1YFGEICLLTKG------------RRTASVR>A<DTYCRLYSLSVDNFNEVLEEYPMMRRAFET585
HCN2YFGEICLLTRG------------RRTASVR>A<DTYCRLYSLSVDNFNEVLEEYPMMRRAFET654
HCN3YFGEICLLTRG------------RRTASVR>A<DTYCRLYSLSVDHFNAVLEEFPMMRRAFET538
HCN4YFGEICLLTRG------------RRTASVR>A<DTYCRLYSLSVDNFNEVLEEYPMMRRAFET705
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 824 for KCNH2.