Paralogue Annotation for KCNH2 residue 699

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 699
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 699

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN4D553NSinus node diseaseMedium9 15123648, 23075627, 24569893
CNGA3R439WAchromatopsiaMedium9 18521937, 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.



KCNH2GTARYHTQMLRVREFIRFHQIPNPLRQRLE>E<YFQHAWSYTNGIDMNAVLKGFPECLQADIC729
KCNH1NTNRYHEMLNSVRDFLKLYQVPKGLSERVM>D<YIVSTWSMSRGIDTEKVLQICPKDMRADIC568
KCNH3RRFLYHSRTRDLRDYIRIHRIPKPLKQRML>E<YFQATWAVNNGIDTTELLQSLPDELRADIA570
KCNH4RRSLYHSRMKDLKDFIRVHRLPRPLKQRML>E<YFQTTWAVNSGIDANELLRDFPDELRADIA544
KCNH5NTNRYHEMLNNVRDFLKLYQVPKGLSERVM>D<YIVSTWSMSKGIDTEKVLSICPKDMRADIC537
KCNH6GTARYHTQMLRVKEFIRFHQIPNPLRQRLE>E<YFQHAWSYTNGIDMNAVLKGFPECLQADIC581
KCNH7GTARYHMQMLRVKEFIRFHQIPNPLRQRLE>E<YFQHAWTYTNGIDMNMVLKGFPECLQADIC732
KCNH8RWSLYHTRTKDLKDFIRVHHLPQQLKQRML>E<YFQTTWSVNNGIDSNELLKDFPDELRSDIT539
CNGA1ARAEFQARIDAIKQYMHFRNVSKDMEKRVI>K<WFDYLWTNKKTVDEKEVLKYLPDKLRAEIA466
CNGA2TRAEFQAKIDAVKHYMQFRKVSKGMEAKVI>R<WFDYLWTNKKTVDEREILKNLPAKLRAEIA441
CNGA3SRAEFQAKIDSIKQYMQFRKVTKDLETRVI>R<WFDYLWANKKTVDEKEVLKSLPDKLKAEIA469
CNGA4ADAAFYPDHALVKKYMKLQHVNRKLERRVI>D<WYQHLQINKKMTNEVAILQHLPERLRAEVA335
CNGB1GQTYYRSCMDSTVKYMNFYKIPKSVQNRVK>T<WYEYTWHSQGMLDESELMVQLPDKMRLDLA949
CNGB3NQNYFRACMDDTIAYMNNYSIPKLVQKRVR>T<WYEYTWDSQRMLDESDLLKTLPTTVQLALA511
HCN1SRRQYQEKYKQVEQYMSFHKLPADMRQKIH>D<YYEHRYQG-KIFDEENILNELNDPLREEIV462
HCN2SRRQYQEKYKQVEQYMSFHKLPADFRQKIH>D<YYEHRYQG-KMFDEDSILGELNGPLREEIV531
HCN3SRRQYQEKYKQVEQYMSFHKLPADTRQRIH>E<YYEHRYQG-KMFDEESILGELSEPLREEII415
HCN4SRRQYQEKYKQVEQYMSFHKLPPDTRQRIH>D<YYEHRYQG-KMFDEESILGELSEPLREEII582
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E699Dc.2097G>C Putative BenignSIFT: tolerated
Polyphen: probably damaging