Paralogue Annotation for KCNH2 residue 106

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 106
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 106

No paralogue variants have been mapped to residue 106 for KCNH2.



KCNH2------DGS--------------------C>F<LCLVDVV-----------------------113
KCNH1------NRT--------------------P>V<WFFVKIA-----------------------114
KCNH3------SGL--------------------P>F<WCLLDVI-----------------------114
KCNH4------DGS--------------------A>F<WCLLDMM-----------------------114
KCNH5------NRT--------------------P>V<WFYMQIA-----------------------112
KCNH6------DAS--------------------S>F<RCLVDVV-----------------------113
KCNH7------NGS--------------------T>F<ICNTHII-----------------------113
KCNH8------NGS--------------------P>F<WCLLDIV-----------------------114
CNGA1------GSF--------------------S>Y<KSLRKG-G----------------------75
CNGA2------ADV--------------------D>-<APQQGRSG----------------------65
CNGA3------ADS--------------------G>Q<GSFTGQ-G----------------------69
CNGA4------------------------------>-<------------------------------
CNGB1VLPQPPKSSEVWRDEPAVATGAASDPAPPG>R<PQEMGPKLQARETPSLPTPIPLQPKEEPKE229
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F106Lc.318C>A Inherited ArrhythmiaLQTSrs199473497SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013
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
p.F106Yc.317T>A Inherited ArrhythmiaLQTSrs199472858SIFT: deleterious
Polyphen: benign
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 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
p.F106Vc.316T>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
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