Paralogue Annotation for KCNH2 residue 114

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 114
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 114

No paralogue variants have been mapped to residue 114 for KCNH2.



KCNH2------------------------------>P<VK---NEDGAVIMFILNFEVVMEKDM-VG-139
KCNH1------------------------------>P<IR---NEQDKVVLFLCTFSDITAFKQ-PI-140
KCNH3------------------------------>P<IK---NEKGEVALFLVSHKDISETK-NRG-140
KCNH4------------------------------>P<IK---NEMGEVVLFLFSFKDITQSGSPGL-141
KCNH5------------------------------>P<IR---NEHEKVVLFLCTFKDITLFKQ-PI-138
KCNH6------------------------------>P<VK---NEDGAVIMFILNFEDLAQL------135
KCNH7------------------------------>P<VK---NQEGVAMMFIINFEYVTDNEN-AA-139
KCNH8------------------------------>P<IK---NEKGDVVLFLASFKDITDTK-VKI-140
CNGA1------------------------------>P<SQREQYLPGAIALFNVNNSSNKDQ------100
CNGA2------------------------------>-<FRRIVRLVGIIREWANKNFREEEP------89
CNGA3------------------------------>-<IARLSRLIFLLRRWAARHVHHQDQ------93
CNGA4------------------------------>-<----------------------DT------5
CNGB1SLPPTRDPARLVAWVLHRLEMALPQPVLHG>K<IG---EQEPDSPGICDVQTISILPGG---Q299
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<-------------------GGGGGGG-GGG72
HCN2------------------------------>-<-------------------GAASGPA-PGP138
HCN3------------------------------>-<-------------------TAASGPI-PKS40
HCN4------------------------------>-<-------------------QPSVDTA-IKV190
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P114Sc.340C>T Inherited ArrhythmiaLQTSrs199472861SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472
Inherited ArrhythmiaLQTS Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724
Inherited 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