Paralogue Annotation for KCNH2 residue 108

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 108
Reference Amino Acid: C - Cysteine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 108

No paralogue variants have been mapped to residue 108 for KCNH2.



KCNH2----DGS--------------------CFL>C<LVDVV-------------------------113
KCNH1----NRT--------------------PVW>F<FVKIA-------------------------114
KCNH3----SGL--------------------PFW>C<LLDVI-------------------------114
KCNH4----DGS--------------------AFW>C<LLDMM-------------------------114
KCNH5----NRT--------------------PVW>F<YMQIA-------------------------112
KCNH6----DAS--------------------SFR>C<LVDVV-------------------------113
KCNH7----NGS--------------------TFI>C<NTHII-------------------------113
KCNH8----NGS--------------------PFW>C<LLDIV-------------------------114
CNGA1----GSF--------------------SYK>S<LRKG-G------------------------75
CNGA2----ADV--------------------D-A>P<QQGRSG------------------------65
CNGA3----ADS--------------------GQG>S<FTGQ-G------------------------69
CNGA4------------------------------>-<------------------------------
CNGB1PQPPKSSEVWRDEPAVATGAASDPAPPGRP>Q<EMGPKLQARETPSLPTPIPLQPKEEPKEAP231
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C108Rc.322T>C Inherited ArrhythmiaLQTSrs199472859SIFT: 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 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