Paralogue Annotation for KCNH2 residue 712

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 712
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 712

No paralogue variants have been mapped to residue 712 for KCNH2.



KCNH2EFIRFHQIPNPLRQRLEEYFQHAWSYTNGI>D<MNAVLKGFPECLQADICLHLNRSLLQHCKP742
KCNH1DFLKLYQVPKGLSERVMDYIVSTWSMSRGI>D<TEKVLQICPKDMRADICVHLNRKVFKEHPA581
KCNH3DYIRIHRIPKPLKQRMLEYFQATWAVNNGI>D<TTELLQSLPDELRADIAMHLHKEVL-QLPL582
KCNH4DFIRVHRLPRPLKQRMLEYFQTTWAVNSGI>D<ANELLRDFPDELRADIAMHLNREIL-QLPL556
KCNH5DFLKLYQVPKGLSERVMDYIVSTWSMSKGI>D<TEKVLSICPKDMRADICVHLNRKVFNEHPA550
KCNH6EFIRFHQIPNPLRQRLEEYFQHAWSYTNGI>D<MNAVLKGFPECLQADICLHLHRALLQHCPA594
KCNH7EFIRFHQIPNPLRQRLEEYFQHAWTYTNGI>D<MNMVLKGFPECLQADICLHLNQTLLQNCKA745
KCNH8DFIRVHHLPQQLKQRMLEYFQTTWSVNNGI>D<SNELLKDFPDELRSDITMHLNKEIL-QLSL551
CNGA1QYMHFRNVSKDMEKRVIKWFDYLWTNKKTV>D<EKEVLKYLPDKLRAEIAINVHLDTLKKVRI479
CNGA2HYMQFRKVSKGMEAKVIRWFDYLWTNKKTV>D<EREILKNLPAKLRAEIAINVHLSTLKKVRI454
CNGA3QYMQFRKVTKDLETRVIRWFDYLWANKKTV>D<EKEVLKSLPDKLKAEIAINVHLDTLKKVRI482
CNGA4KYMKLQHVNRKLERRVIDWYQHLQINKKMT>N<EVAILQHLPERLRAEVAVSVHLSTLSRVQI348
CNGB1KYMNFYKIPKSVQNRVKTWYEYTWHSQGML>D<ESELMVQLPDKMRLDLAIDVNYNIVSKVAL962
CNGB3AYMNNYSIPKLVQKRVRTWYEYTWDSQRML>D<ESDLLKTLPTTVQLALAIDVNFSIISKVDL524
HCN1QYMSFHKLPADMRQKIHDYYEHRYQG-KIF>D<EENILNELNDPLREEIVNFNCRKLVATMPL475
HCN2QYMSFHKLPADFRQKIHDYYEHRYQG-KMF>D<EDSILGELNGPLREEIVNFNCRKLVASMPL544
HCN3QYMSFHKLPADTRQRIHEYYEHRYQG-KMF>D<EESILGELSEPLREEIINFTCRGLVAHMPL428
HCN4QYMSFHKLPPDTRQRIHDYYEHRYQG-KMF>D<EESILGELSEPLREEIINFNCRKLVASMPL595
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D712Nc.2134G>A Inherited ArrhythmiaSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661