Paralogue Annotation for KCNH2 residue 684

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 684
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 684

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGB3M466KCone dystrophyMedium9 25412400
CNGA3M424VAchromatopsiaMedium9 27040408

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.



KCNH2SIFGNVSAIIQRLYSGTARYHTQMLRVREF>I<RFHQIPNPLRQRLEEYFQHAWSYTNGIDMN714
KCNH1TIFGNVTTIFQQMYANTNRYHEMLNSVRDF>L<KLYQVPKGLSERVMDYIVSTWSMSRGIDTE553
KCNH3VVFGNVTAIIQRMYARRFLYHSRTRDLRDY>I<RIHRIPKPLKQRMLEYFQATWAVNNGIDTT555
KCNH4VVFGNVTAIIQRMYSRRSLYHSRMKDLKDF>I<RVHRLPRPLKQRMLEYFQTTWAVNSGIDAN529
KCNH5TIFGNVTTIFQQMYANTNRYHEMLNNVRDF>L<KLYQVPKGLSERVMDYIVSTWSMSKGIDTE522
KCNH6SIFGNVSAIIQRLYSGTARYHTQMLRVKEF>I<RFHQIPNPLRQRLEEYFQHAWSYTNGIDMN566
KCNH7SIFGNVSAIIQRLYSGTARYHMQMLRVKEF>I<RFHQIPNPLRQRLEEYFQHAWTYTNGIDMN717
KCNH8LVFGNVTAIIQRMYSRWSLYHTRTKDLKDF>I<RVHHLPQQLKQRMLEYFQTTWSVNNGIDSN524
CNGA1TIVGNIGSMISNMNAARAEFQARIDAIKQY>M<HFRNVSKDMEKRVIKWFDYLWTNKKTVDEK451
CNGA2TIVGNVGSMISNMNATRAEFQAKIDAVKHY>M<QFRKVSKGMEAKVIRWFDYLWTNKKTVDER426
CNGA3TIVGNVGSMISNMNASRAEFQAKIDSIKQY>M<QFRKVTKDLETRVIRWFDYLWANKKTVDEK454
CNGA4TIMGSMSSVIYNMNTADAAFYPDHALVKKY>M<KLQHVNRKLERRVIDWYQHLQINKKMTNEV320
CNGB1VMIGQMRDVVGAATAGQTYYRSCMDSTVKY>M<NFYKIPKSVQNRVKTWYEYTWHSQGMLDES934
CNGB3SLIGQMRDVIGAATANQNYFRACMDDTIAY>M<NNYSIPKLVQKRVRTWYEYTWDSQRMLDES496
HCN1MFVGHATALIQSLDSSRRQYQEKYKQVEQY>M<SFHKLPADMRQKIHDYYEHRYQG-KIFDEE447
HCN2MFIGHATALIQSLDSSRRQYQEKYKQVEQY>M<SFHKLPADFRQKIHDYYEHRYQG-KMFDED516
HCN3MFIGHATALIQSLDSSRRQYQEKYKQVEQY>M<SFHKLPADTRQRIHEYYEHRYQG-KMFDEE400
HCN4MFIGHATALIQSLDSSRRQYQEKYKQVEQY>M<SFHKLPPDTRQRIHDYYEHRYQG-KMFDEE567
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 684 for KCNH2.