Paralogue Annotation for KCNH2 residue 817

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 817
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 817

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3R563CAchromatopsiaMedium9 18445228
CNGA3R563HColour-blindness, totalMedium9 11536077, 15743887

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.



KCNH2AILGKNDIFGEPLNLYAR------P----G>K<SNGDVRALTYCDLHKIHRDDLLEVLDMYPE847
KCNH1AILGKGDVFGDVFWKEAT------L----A>Q<SCANVRALTYCDLHVIKRDALQKVLEFYTA686
KCNH3AILGKGDLIGCELPRREQ------V----V>K<ANADVKGLTYCVLQCLQLAGLHDSLALYPE687
KCNH4AILGKGDLIGADIPEPGQEPGLGADPNFVL>K<TSADVKALTYCGLQQLSSRGLAEVLRLYPE671
KCNH5AILGKGDVFGDIFWKETT------L----A>H<ACANVRALTYCDLHIIKREALLKVLDFYTA655
KCNH6AILGKNDIFGEPVSLHAQ------P----G>K<SSADVRALTYCDLHKIQRADLLEVLDMYPA699
KCNH7AILGKNDIFGEMVHLYAK------P----G>K<SNADVRALTYCDLHKIQREDLLEVLDMYPE850
KCNH8AILGKGDLIGANLSIKDQ------V----I>K<TNADVKALTYCDLQCIILKGLFEVLDLYPE656
CNGA1VVLSDGSYFGEISILNIKGSKA--G----N>R<RTANIKSIGYSDLFCLSKDDLMEALTEYPD590
CNGA2ALLSAGSCFGEISILNIKGSKM--G----N>R<RTANIRSLGYSDLFCLSKDDLMEAVTEYPD565
CNGA3VVLSDGSYFGEISILNIKGSKS--G----N>R<RTANIRSIGYSDLFCLSKDDLMEALTEYPE593
CNGA4AVLGAGLYFGEISIINIKGNMS--G----N>R<RTANIKSLGYSDLFCLSKEDLREVLSEYPQ459
CNGB1VTLKAGSVFGEISLLAVGG-----G----N>R<RTANVVAHGFTNLFILDKKDLNEILVHYPE1071
CNGB3VTLKAGSVFGEISLLAAGG-----G----N>R<RTANVVAHGFANLLTLDKKTLQEILVHYPD633
HCN1MKLTDGSYFGEICLLTKG------------>R<RTASVRADTYCRLYSLSVDNFNEVLEEYPM578
HCN2MKLSDGSYFGEICLLTRG------------>R<RTASVRADTYCRLYSLSVDNFNEVLEEYPM647
HCN3TRLTDGSYFGEICLLTRG------------>R<RTASVRADTYCRLYSLSVDHFNAVLEEFPM531
HCN4TKLADGSYFGEICLLTRG------------>R<RTASVRADTYCRLYSLSVDNFNEVLEEYPM698
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 817 for KCNH2.