Paralogue Annotation for KCNH2 residue 306

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 306
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 306

No paralogue variants have been mapped to residue 306 for KCNH2.



KCNH2SADDIEAM--------RAGVLPPPPRHAST>G<AMHPLRSGLLNSTSDSDLVRYR---TISKI333
KCNH1------------------------------>-<-------------------KFA--------152
KCNH3------------------------------>-<--------------------S---------160
KCNH4------------------------------>-<--------------------A---------161
KCNH5------------------------------>-<-------------------KFA--------150
KCNH6------------------------------>-<---------------TGRGKYR---TISQI181
KCNH7SVHDIEGFGVHPKNIFRDRHASEDNGRNVK>G<PFNHIKSSLLGSTSDSNLNKYS---TINKI332
KCNH8------------------------------>-<--------------------A---------156
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1ELKALSPAESPVVAWSDPTTPKDTDGQDRA>A<STASTNSAIINDRLQELVKLFKERTEKV-K583
CNGB3EQKEMDPGKE------GPNSPQNK------>P<PAAPVINEYADAQLHNLVKRMRQRTALY-K147
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G306Rc.916G>C Inherited ArrhythmiaLQTSrs199472884SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142
p.G306Wc.916G>T Inherited ArrhythmiaLQTSrs199472884SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
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