Paralogue Annotation for KCNH2 residue 661

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 661
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 661

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3S401PAchromatopsiaMedium9 15712225

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.



KCNH2SPNTNSEKIFSICVMLIGSLMYASIFGNVS>A<IIQRLYSGTARYHTQMLRVREFIRFHQIPN691
KCNH1APSTDIEKIFAVAIMMIGSLLYATIFGNVT>T<IFQQMYANTNRYHEMLNSVRDFLKLYQVPK530
KCNH3SANTDTEKIFSICTMLIGALMHAVVFGNVT>A<IIQRMYARRFLYHSRTRDLRDYIRIHRIPK532
KCNH4CANTDAEKIFSICTMLIGALMHAVVFGNVT>A<IIQRMYSRRSLYHSRMKDLKDFIRVHRLPR506
KCNH5APTTDVEKMFSVAMMMVGSLLYATIFGNVT>T<IFQQMYANTNRYHEMLNNVRDFLKLYQVPK499
KCNH6SPNTNSEKVFSICVMLIGSLMYASIFGNVS>A<IIQRLYSGTARYHTQMLRVKEFIRFHQIPN543
KCNH7SPNTNSEKIFSICVMLIGSLMYASIFGNVS>A<IIQRLYSGTARYHMQMLRVKEFIRFHQIPN694
KCNH8SANTDAEKIFSICTMLIGALMHALVFGNVT>A<IIQRMYSRWSLYHTRTKDLKDFIRVHHLPQ501
CNGA1PPVRDSEYVFVVVDFLIGVLIFATIVGNIG>S<MISNMNAARAEFQARIDAIKQYMHFRNVSK428
CNGA2PPVKDEEYLFVIFDFLIGVLIFATIVGNVG>S<MISNMNATRAEFQAKIDAVKHYMQFRKVSK403
CNGA3PPVKDEEYLFVVVDFLVGVLIFATIVGNVG>S<MISNMNASRAEFQAKIDSIKQYMQFRKVTK431
CNGA4PPAREEEYLFMVGDFLLAVMGFATIMGSMS>S<VIYNMNTADAAFYPDHALVKKYMKLQHVNR297
CNGB1DPKTLFEIVFQLLNYFTGVFAFSVMIGQMR>D<VVGAATAGQTYYRSCMDSTVKYMNFYKIPK911
CNGB3EPQTLFEIVFQLLNFFSGVFVFSSLIGQMR>D<VIGAATANQNYFRACMDDTIAYMNNYSIPK473
HCN1APVSMSDLWITMLSMIVGATCYAMFVGHAT>A<LIQSLDSSRRQYQEKYKQVEQYMSFHKLPA425
HCN2APESMTDIWLTMLSMIVGATCYAMFIGHAT>A<LIQSLDSSRRQYQEKYKQVEQYMSFHKLPA494
HCN3APVGMPDVWLTMLSMIVGATCYAMFIGHAT>A<LIQSLDSSRRQYQEKYKQVEQYMSFHKLPA378
HCN4APVGMSDVWLTMLSMIVGATCYAMFIGHAT>A<LIQSLDSSRRQYQEKYKQVEQYMSFHKLPP545
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A661Vc.1982C>T Putative BenignSIFT:
Polyphen: