Paralogue Annotation for KCNH2 residue 680

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 680
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 680

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH6V532FHyperinsulismHigh9 23869231

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.



KCNH2LMYASIFGNVSAIIQRLYSGTARYHTQMLR>V<REFIRFHQIPNPLRQRLEEYFQHAWSYTNG710
KCNH1LLYATIFGNVTTIFQQMYANTNRYHEMLNS>V<RDFLKLYQVPKGLSERVMDYIVSTWSMSRG549
KCNH3LMHAVVFGNVTAIIQRMYARRFLYHSRTRD>L<RDYIRIHRIPKPLKQRMLEYFQATWAVNNG551
KCNH4LMHAVVFGNVTAIIQRMYSRRSLYHSRMKD>L<KDFIRVHRLPRPLKQRMLEYFQTTWAVNSG525
KCNH5LLYATIFGNVTTIFQQMYANTNRYHEMLNN>V<RDFLKLYQVPKGLSERVMDYIVSTWSMSKG518
KCNH6LMYASIFGNVSAIIQRLYSGTARYHTQMLR>V<KEFIRFHQIPNPLRQRLEEYFQHAWSYTNG562
KCNH7LMYASIFGNVSAIIQRLYSGTARYHMQMLR>V<KEFIRFHQIPNPLRQRLEEYFQHAWTYTNG713
KCNH8LMHALVFGNVTAIIQRMYSRWSLYHTRTKD>L<KDFIRVHHLPQQLKQRMLEYFQTTWSVNNG520
CNGA1LIFATIVGNIGSMISNMNAARAEFQARIDA>I<KQYMHFRNVSKDMEKRVIKWFDYLWTNKKT447
CNGA2LIFATIVGNVGSMISNMNATRAEFQAKIDA>V<KHYMQFRKVSKGMEAKVIRWFDYLWTNKKT422
CNGA3LIFATIVGNVGSMISNMNASRAEFQAKIDS>I<KQYMQFRKVTKDLETRVIRWFDYLWANKKT450
CNGA4MGFATIMGSMSSVIYNMNTADAAFYPDHAL>V<KKYMKLQHVNRKLERRVIDWYQHLQINKKM316
CNGB1FAFSVMIGQMRDVVGAATAGQTYYRSCMDS>T<VKYMNFYKIPKSVQNRVKTWYEYTWHSQGM930
CNGB3FVFSSLIGQMRDVIGAATANQNYFRACMDD>T<IAYMNNYSIPKLVQKRVRTWYEYTWDSQRM492
HCN1TCYAMFVGHATALIQSLDSSRRQYQEKYKQ>V<EQYMSFHKLPADMRQKIHDYYEHRYQG-KI443
HCN2TCYAMFIGHATALIQSLDSSRRQYQEKYKQ>V<EQYMSFHKLPADFRQKIHDYYEHRYQG-KM512
HCN3TCYAMFIGHATALIQSLDSSRRQYQEKYKQ>V<EQYMSFHKLPADTRQRIHEYYEHRYQG-KM396
HCN4TCYAMFIGHATALIQSLDSSRRQYQEKYKQ>V<EQYMSFHKLPPDTRQRIHDYYEHRYQG-KM563
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 680 for KCNH2.