Paralogue Annotation for KCNH2 residue 676

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 676
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 676

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN4K530NTachycardia-bradycardia syndrome and atrial fibrilMedium9 23178648, 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.



KCNH2LIGSLMYASIFGNVSAIIQRLYSGTARYHT>Q<MLRVREFIRFHQIPNPLRQRLEEYFQHAWS706
KCNH1MIGSLLYATIFGNVTTIFQQMYANTNRYHE>M<LNSVRDFLKLYQVPKGLSERVMDYIVSTWS545
KCNH3LIGALMHAVVFGNVTAIIQRMYARRFLYHS>R<TRDLRDYIRIHRIPKPLKQRMLEYFQATWA547
KCNH4LIGALMHAVVFGNVTAIIQRMYSRRSLYHS>R<MKDLKDFIRVHRLPRPLKQRMLEYFQTTWA521
KCNH5MVGSLLYATIFGNVTTIFQQMYANTNRYHE>M<LNNVRDFLKLYQVPKGLSERVMDYIVSTWS514
KCNH6LIGSLMYASIFGNVSAIIQRLYSGTARYHT>Q<MLRVKEFIRFHQIPNPLRQRLEEYFQHAWS558
KCNH7LIGSLMYASIFGNVSAIIQRLYSGTARYHM>Q<MLRVKEFIRFHQIPNPLRQRLEEYFQHAWT709
KCNH8LIGALMHALVFGNVTAIIQRMYSRWSLYHT>R<TKDLKDFIRVHHLPQQLKQRMLEYFQTTWS516
CNGA1LIGVLIFATIVGNIGSMISNMNAARAEFQA>R<IDAIKQYMHFRNVSKDMEKRVIKWFDYLWT443
CNGA2LIGVLIFATIVGNVGSMISNMNATRAEFQA>K<IDAVKHYMQFRKVSKGMEAKVIRWFDYLWT418
CNGA3LVGVLIFATIVGNVGSMISNMNASRAEFQA>K<IDSIKQYMQFRKVTKDLETRVIRWFDYLWA446
CNGA4LLAVMGFATIMGSMSSVIYNMNTADAAFYP>D<HALVKKYMKLQHVNRKLERRVIDWYQHLQI312
CNGB1FTGVFAFSVMIGQMRDVVGAATAGQTYYRS>C<MDSTVKYMNFYKIPKSVQNRVKTWYEYTWH926
CNGB3FSGVFVFSSLIGQMRDVIGAATANQNYFRA>C<MDDTIAYMNNYSIPKLVQKRVRTWYEYTWD488
HCN1IVGATCYAMFVGHATALIQSLDSSRRQYQE>K<YKQVEQYMSFHKLPADMRQKIHDYYEHRYQ440
HCN2IVGATCYAMFIGHATALIQSLDSSRRQYQE>K<YKQVEQYMSFHKLPADFRQKIHDYYEHRYQ509
HCN3IVGATCYAMFIGHATALIQSLDSSRRQYQE>K<YKQVEQYMSFHKLPADTRQRIHEYYEHRYQ393
HCN4IVGATCYAMFIGHATALIQSLDSSRRQYQE>K<YKQVEQYMSFHKLPPDTRQRIHDYYEHRYQ560
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 676 for KCNH2.