Paralogue Annotation for KCNH2 residue 1066

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1066
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1066

No paralogue variants have been mapped to residue 1066 for KCNH2.



KCNH2NRLETRLSADMATVLQ-------------->L<LQRQMTLVPPAYSAVTTP------------1084
KCNH1KKTDSCDSGITKSDLR-------------->L<DNVGEARSPQDRSPILAEVKHSF-------914
KCNH3DKLRQAVTELSEQVLQ-------------->M<REGLQSLRQAVQLVLAPHREGP--------917
KCNH4CRLNQEISRLNQEVSQ-------------->L<SRELRHIMGLLQARLGPP------------915
KCNH5RKTDSCDSGITKSDLR-------------->L<DKAGEARSPLEHSPIQADAKHPF-------898
KCNH6PPAQTPSYGDLDDCSP-------------->K<HRNSSPRMP--HLAVATD------------926
KCNH7NRLESQMTTDIQTILQ-------------->L<LQKQTTVVPPAYSMVTAGSEYQR-------1082
KCNH8NKLNSEVTTLTQEVSQ-------------->L<GKDMRNVIQLLENVLSPQQPSRFCSLHSTS914
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------------------------------>-<------------------------------
CNGB3------------------------------>-<------------------------------
HCN1TREVRPLSASQPSLPHEVSTLISRPHPTVG>-<---ESLASIPQPVTAVPGTGLQ--------828
HCN2SRASRPLSASQPSLPHGAPGPAASTRPAS->-<------------------------------842
HCN3GPRGRPLSASQPSLPQRATGDGSPGRKGS->-<------------------------------734
HCN4TQDLKLISASQPALPQDGAQTLRRASPHSS>G<ESMAAFPLFPRAGGGSGGSGS---------1131
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1066Vc.3196C>G Inherited ArrhythmiaLQTSrs199473027SIFT: deleterious
Polyphen: possibly 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
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810