Paralogue Annotation for KCNH2 residue 827

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 827
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 827

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3Y573CColour-blindness, totalHigh9 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.



KCNH2EPLNLYAR------P----GKSNGDVRALT>Y<CDLHKIHRDDLLEVLDMYPEFSDHFWSSL-856
KCNH1DVFWKEAT------L----AQSCANVRALT>Y<CDLHVIKRDALQKVLEFYTAFSHSFSRNL-695
KCNH3CELPRREQ------V----VKANADVKGLT>Y<CVLQCLQLAGLHDSLALYPEFAPRFSRGLR697
KCNH4ADIPEPGQEPGLGADPNFVLKTSADVKALT>Y<CGLQQLSSRGLAEVLRLYPEYGAAFRAGLP681
KCNH5DIFWKETT------L----AHACANVRALT>Y<CDLHIIKREALLKVLDFYTAFANSFSRNL-664
KCNH6EPVSLHAQ------P----GKSSADVRALT>Y<CDLHKIQRADLLEVLDMYPAFAESFWSKL-708
KCNH7EMVHLYAK------P----GKSNADVRALT>Y<CDLHKIQREDLLEVLDMYPEFSDHFLTNL-859
KCNH8ANLSIKDQ------V----IKTNADVKALT>Y<CDLQCIILKGLFEVLDLYPEYAHKFVEDIQ666
CNGA1EISILNIKGSKA--G----NRRTANIKSIG>Y<SDLFCLSKDDLMEALTEYPDAKTMLEEKGK600
CNGA2EISILNIKGSKM--G----NRRTANIRSLG>Y<SDLFCLSKDDLMEAVTEYPDAKKVLEERGR575
CNGA3EISILNIKGSKS--G----NRRTANIRSIG>Y<SDLFCLSKDDLMEALTEYPEAKKALEEKGR603
CNGA4EISIINIKGNMS--G----NRRTANIKSLG>Y<SDLFCLSKEDLREVLSEYPQAQTIMEEKGR469
CNGB1EISLLAVGG-----G----NRRTANVVAHG>F<TNLFILDKKDLNEILVHYPESQKLLRKKAR1081
CNGB3EISLLAAGG-----G----NRRTANVVAHG>F<ANLLTLDKKTLQEILVHYPDSERILMKKAR643
HCN1EICLLTKG------------RRTASVRADT>Y<CRLYSLSVDNFNEVLEEYPMMRRAFETVAI588
HCN2EICLLTRG------------RRTASVRADT>Y<CRLYSLSVDNFNEVLEEYPMMRRAFETVAI657
HCN3EICLLTRG------------RRTASVRADT>Y<CRLYSLSVDHFNAVLEEFPMMRRAFETVAM541
HCN4EICLLTRG------------RRTASVRADT>Y<CRLYSLSVDNFNEVLEEYPMMRRAFETVAL708
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 827 for KCNH2.