Paralogue Annotation for KCNH2 residue 821

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 821
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 821

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN4S672RSinus bradycardiaMedium9 16407510, 23103389, 24569893

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.



KCNH2KNDIFGEPLNLYAR------P----GKSNG>D<VRALTYCDLHKIHRDDLLEVLDMYPEFSDH851
KCNH1KGDVFGDVFWKEAT------L----AQSCA>N<VRALTYCDLHVIKRDALQKVLEFYTAFSHS690
KCNH3KGDLIGCELPRREQ------V----VKANA>D<VKGLTYCVLQCLQLAGLHDSLALYPEFAPR691
KCNH4KGDLIGADIPEPGQEPGLGADPNFVLKTSA>D<VKALTYCGLQQLSSRGLAEVLRLYPEYGAA675
KCNH5KGDVFGDIFWKETT------L----AHACA>N<VRALTYCDLHIIKREALLKVLDFYTAFANS659
KCNH6KNDIFGEPVSLHAQ------P----GKSSA>D<VRALTYCDLHKIQRADLLEVLDMYPAFAES703
KCNH7KNDIFGEMVHLYAK------P----GKSNA>D<VRALTYCDLHKIQREDLLEVLDMYPEFSDH854
KCNH8KGDLIGANLSIKDQ------V----IKTNA>D<VKALTYCDLQCIILKGLFEVLDLYPEYAHK660
CNGA1DGSYFGEISILNIKGSKA--G----NRRTA>N<IKSIGYSDLFCLSKDDLMEALTEYPDAKTM594
CNGA2AGSCFGEISILNIKGSKM--G----NRRTA>N<IRSLGYSDLFCLSKDDLMEAVTEYPDAKKV569
CNGA3DGSYFGEISILNIKGSKS--G----NRRTA>N<IRSIGYSDLFCLSKDDLMEALTEYPEAKKA597
CNGA4AGLYFGEISIINIKGNMS--G----NRRTA>N<IKSLGYSDLFCLSKEDLREVLSEYPQAQTI463
CNGB1AGSVFGEISLLAVGG-----G----NRRTA>N<VVAHGFTNLFILDKKDLNEILVHYPESQKL1075
CNGB3AGSVFGEISLLAAGG-----G----NRRTA>N<VVAHGFANLLTLDKKTLQEILVHYPDSERI637
HCN1DGSYFGEICLLTKG------------RRTA>S<VRADTYCRLYSLSVDNFNEVLEEYPMMRRA582
HCN2DGSYFGEICLLTRG------------RRTA>S<VRADTYCRLYSLSVDNFNEVLEEYPMMRRA651
HCN3DGSYFGEICLLTRG------------RRTA>S<VRADTYCRLYSLSVDHFNAVLEEFPMMRRA535
HCN4DGSYFGEICLLTRG------------RRTA>S<VRADTYCRLYSLSVDNFNEVLEEYPMMRRA702
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 821 for KCNH2.