Paralogue Annotation for KCNH2 residue 94

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 94
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 94

No paralogue variants have been mapped to residue 94 for KCNH2.



KCNH2----------------GAEE-R-------K>V<E-IAFYRK-----------DGS--------104
KCNH1----------------NYEM-N-------S>F<E-ILMYKK-----------NRT--------105
KCNH3----------------EHKE-F-------K>A<E-LILYRK-----------SGL--------105
KCNH4----------------GHQE-H-------R>A<E-ICFYRK-----------DGS--------105
KCNH5----------------NYES-N-------C>F<E-VLLYKK-----------NRT--------103
KCNH6----------------GAEE-C-------K>V<D-ILYYRK-----------DAS--------104
KCNH7----------------GSEE-R-------K>V<E-VTYYHK-----------NGS--------104
KCNH8----------------EKTE-F-------K>G<E-IMFYKK-----------NGS--------105
CNGA1----------------EDDD-SASTSEESE>N<EN-PHA-R-----------GSF--------66
CNGA2----------------AADDDTSSE----->-<---LQR-L-----------ADV--------56
CNGA3----------------SSEE-TSSVLQPGI>A<ME-TRG-L-----------ADS--------60
CNGA4------------------------------>-<------------------------------
CNGB1----------------AQDT-R-------P>G<LRLLLWLEQNLERVLPQPPKSSEVWRDEPA185
CNGB3------------------------------>-<------------------------------
HCN1AAAEKRLGTPPGGGGAGAKE-H-------G>N<S-VCFKVD----------------------62
HCN2NGECGRGEPQCSPAGPEGPA-R-------G>P<K-VSFSCR----------------------128
HCN3------------------------------>-<---APPPA----------------------30
HCN4------------------------------>-<----ASCE----------------------180
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V94Gc.281T>G Inherited ArrhythmiaLQTSrs199472852SIFT: 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
p.V94Mc.280G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome. Circ Arrhythm Electrophysiol. 2011 4(6):867-73. 21956039