Paralogue Annotation for KCNH2 residue 844

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 844
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 844

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3E590KAchromatopsiaMedium9 15712225, 26992781

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.



KCNH2--GKSNGDVRALTYCDLHKIHRDDLLEVLD>M<YPEFSDHFWSSL--EIT-FNLRDTNM-IP-869
KCNH1--AQSCANVRALTYCDLHVIKRDALQKVLE>F<YTAFSHSFSRNL--ILT-YNLRKRIV-FRK709
KCNH3--VKANADVKGLTYCVLQCLQLAGLHDSLA>L<YPEFAPRFSRGLRGELS-YNLGAGGG-SAE712
KCNH4FVLKTSADVKALTYCGLQQLSSRGLAEVLR>L<YPEYGAAFRAGLPRDLT-FNLRQGSD-TSG696
KCNH5--AHACANVRALTYCDLHIIKREALLKVLD>F<YTAFANSFSRNL--TLT-CNLRKRII-FRK678
KCNH6--GKSSADVRALTYCDLHKIQRADLLEVLD>M<YPAFAESFWSKL--EVT-FNLRDAAG-GL-721
KCNH7--GKSNADVRALTYCDLHKIQREDLLEVLD>M<YPEFSDHFLTNL--ELT-FNLRHESA-KA-872
KCNH8--IKTNADVKALTYCDLQCIILKGLFEVLD>L<YPEYAHKFVEDIQHDLT-YNLREGHE-SDV681
CNGA1--NRRTANIKSIGYSDLFCLSKDDLMEALT>E<YPDAKTMLEEKGKQILMKDGLLDLNI-ANA616
CNGA2--NRRTANIRSLGYSDLFCLSKDDLMEAVT>E<YPDAKKVLEERGREILMKEGLLDENE-VAT591
CNGA3--NRRTANIRSIGYSDLFCLSKDDLMEALT>E<YPEAKKALEEKGRQILMKDNLIDEEL-ARA619
CNGA4--NRRTANIKSLGYSDLFCLSKEDLREVLS>E<YPQAQTIMEEKGREILLKMNKLDVNA-EAA485
CNGB1--NRRTANVVAHGFTNLFILDKKDLNEILV>H<YPESQKLLRKKARRMLRSNNKPK------E1092
CNGB3--NRRTANVVAHGFANLLTLDKKTLQEILV>H<YPDSERILMKKARVLLKQKAKTA-EATPPR659
HCN1---RRTASVRADTYCRLYSLSVDNFNEVLE>E<YPMMRRAFETVAIDRLDRIGKKNSIL-LQK604
HCN2---RRTASVRADTYCRLYSLSVDNFNEVLE>E<YPMMRRAFETVAIDRLDRIGKKNSIL-LHK673
HCN3---RRTASVRADTYCRLYSLSVDHFNAVLE>E<FPMMRRAFETVAMDRLLRIGKKNSIL-QRK557
HCN4---RRTASVRADTYCRLYSLSVDNFNEVLE>E<YPMMRRAFETVALDRLDRIGKKNSIL-LHK724
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 844 for KCNH2.