Paralogue Annotation for KCNH2 residue 847

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 847
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 847

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3E593KColour-blindness, totalHigh9 11536077
CNGB3D633GAchromatopsiaMedium9 15223812

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.



KCNH2KSNGDVRALTYCDLHKIHRDDLLEVLDMYP>E<FSDHFWSSL--EIT-FNLRDTNM-IP-GSP872
KCNH1QSCANVRALTYCDLHVIKRDALQKVLEFYT>A<FSHSFSRNL--ILT-YNLRKRIV-FRKISD712
KCNH3KANADVKGLTYCVLQCLQLAGLHDSLALYP>E<FAPRFSRGLRGELS-YNLGAGGG-SAEVDT715
KCNH4KTSADVKALTYCGLQQLSSRGLAEVLRLYP>E<YGAAFRAGLPRDLT-FNLRQGSD-TSGLSR699
KCNH5HACANVRALTYCDLHIIKREALLKVLDFYT>A<FANSFSRNL--TLT-CNLRKRII-FRKISD681
KCNH6KSSADVRALTYCDLHKIQRADLLEVLDMYP>A<FAESFWSKL--EVT-FNLRDAAG-GL----721
KCNH7KSNADVRALTYCDLHKIQREDLLEVLDMYP>E<FSDHFLTNL--ELT-FNLRHESA-KA-DLL875
KCNH8KTNADVKALTYCDLQCIILKGLFEVLDLYP>E<YAHKFVEDIQHDLT-YNLREGHE-SDVISR684
CNGA1RRTANIKSIGYSDLFCLSKDDLMEALTEYP>D<AKTMLEEKGKQILMKDGLLDLNI-ANAGSD619
CNGA2RRTANIRSLGYSDLFCLSKDDLMEAVTEYP>D<AKKVLEERGREILMKEGLLDENE-VATS-M593
CNGA3RRTANIRSIGYSDLFCLSKDDLMEALTEYP>E<AKKALEEKGRQILMKDNLIDEEL-ARAGAD622
CNGA4RRTANIKSLGYSDLFCLSKEDLREVLSEYP>Q<AQTIMEEKGREILLKMNKLDVNA-EAAEIA488
CNGB1RRTANVVAHGFTNLFILDKKDLNEILVHYP>E<SQKLLRKKARRMLRSNNKPK------EE-K1094
CNGB3RRTANVVAHGFANLLTLDKKTLQEILVHYP>D<SERILMKKARVLLKQKAKTA-EATPPRK-D661
HCN1RRTASVRADTYCRLYSLSVDNFNEVLEEYP>M<MRRAFETVAIDRLDRIGKKNSIL-LQKFQ-606
HCN2RRTASVRADTYCRLYSLSVDNFNEVLEEYP>M<MRRAFETVAIDRLDRIGKKNSIL-LHKVQ-675
HCN3RRTASVRADTYCRLYSLSVDHFNAVLEEFP>M<MRRAFETVAMDRLLRIGKKNSIL-QRKRS-559
HCN4RRTASVRADTYCRLYSLSVDNFNEVLEEYP>M<MRRAFETVALDRLDRIGKKNSIL-LHKVQ-726
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 847 for KCNH2.