Paralogue Annotation for KCNH2 residue 678

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 678
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 678

No paralogue variants have been mapped to residue 678 for KCNH2.



KCNH2GSLMYASIFGNVSAIIQRLYSGTARYHTQM>L<RVREFIRFHQIPNPLRQRLEEYFQHAWSYT708
KCNH1GSLLYATIFGNVTTIFQQMYANTNRYHEML>N<SVRDFLKLYQVPKGLSERVMDYIVSTWSMS547
KCNH3GALMHAVVFGNVTAIIQRMYARRFLYHSRT>R<DLRDYIRIHRIPKPLKQRMLEYFQATWAVN549
KCNH4GALMHAVVFGNVTAIIQRMYSRRSLYHSRM>K<DLKDFIRVHRLPRPLKQRMLEYFQTTWAVN523
KCNH5GSLLYATIFGNVTTIFQQMYANTNRYHEML>N<NVRDFLKLYQVPKGLSERVMDYIVSTWSMS516
KCNH6GSLMYASIFGNVSAIIQRLYSGTARYHTQM>L<RVKEFIRFHQIPNPLRQRLEEYFQHAWSYT560
KCNH7GSLMYASIFGNVSAIIQRLYSGTARYHMQM>L<RVKEFIRFHQIPNPLRQRLEEYFQHAWTYT711
KCNH8GALMHALVFGNVTAIIQRMYSRWSLYHTRT>K<DLKDFIRVHHLPQQLKQRMLEYFQTTWSVN518
CNGA1GVLIFATIVGNIGSMISNMNAARAEFQARI>D<AIKQYMHFRNVSKDMEKRVIKWFDYLWTNK445
CNGA2GVLIFATIVGNVGSMISNMNATRAEFQAKI>D<AVKHYMQFRKVSKGMEAKVIRWFDYLWTNK420
CNGA3GVLIFATIVGNVGSMISNMNASRAEFQAKI>D<SIKQYMQFRKVTKDLETRVIRWFDYLWANK448
CNGA4AVMGFATIMGSMSSVIYNMNTADAAFYPDH>A<LVKKYMKLQHVNRKLERRVIDWYQHLQINK314
CNGB1GVFAFSVMIGQMRDVVGAATAGQTYYRSCM>D<STVKYMNFYKIPKSVQNRVKTWYEYTWHSQ928
CNGB3GVFVFSSLIGQMRDVIGAATANQNYFRACM>D<DTIAYMNNYSIPKLVQKRVRTWYEYTWDSQ490
HCN1GATCYAMFVGHATALIQSLDSSRRQYQEKY>K<QVEQYMSFHKLPADMRQKIHDYYEHRYQG-441
HCN2GATCYAMFIGHATALIQSLDSSRRQYQEKY>K<QVEQYMSFHKLPADFRQKIHDYYEHRYQG-510
HCN3GATCYAMFIGHATALIQSLDSSRRQYQEKY>K<QVEQYMSFHKLPADTRQRIHEYYEHRYQG-394
HCN4GATCYAMFIGHATALIQSLDSSRRQYQEKY>K<QVEQYMSFHKLPPDTRQRIHDYYEHRYQG-561
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L678Pc.2033T>C Inherited ArrhythmiaLQTSrs199472981SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429