Paralogue Annotation for KCNH2 residue 130

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 130
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 130

No paralogue variants have been mapped to residue 130 for KCNH2.



KCNH2-----------PVK---NEDGAVIMFILNF>E<VVMEKDM-VG--------------------139
KCNH1-----------PIR---NEQDKVVLFLCTF>S<DITAFKQ-PI--------------------140
KCNH3-----------PIK---NEKGEVALFLVSH>K<DISETK-NRG--------------------140
KCNH4-----------PIK---NEMGEVVLFLFSF>K<DITQSGSPGL--------------------141
KCNH5-----------PIR---NEHEKVVLFLCTF>K<DITLFKQ-PI--------------------138
KCNH6-----------PVK---NEDGAVIMFILNF>E<DLAQL-------------------------135
KCNH7-----------PVK---NQEGVAMMFIINF>E<YVTDNEN-AA--------------------139
KCNH8-----------PIK---NEKGDVVLFLASF>K<DITDTK-VKI--------------------140
CNGA1-----------PSQREQYLPGAIALFNVNN>S<SNKDQ-------------------------100
CNGA2------------FRRIVRLVGIIREWANKN>F<REEEP-------------------------89
CNGA3------------IARLSRLIFLLRRWAARH>V<HHQDQ-------------------------93
CNGA4------------------------------>-<---DT-------------------------5
CNGB1EMALPQPVLHGKIG---EQEPDSPGICDVQ>T<ISILPGG---QVEPDLVLEEVEPPWEDAHQ318
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<GGGGGGG-GGG-------------------72
HCN2------------------------------>-<GAASGPA-PGP-------------------138
HCN3------------------------------>-<TAASGPI-PKS-------------------40
HCN4------------------------------>-<QPSVDTA-IKV-------------------190
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E130Kc.388G>A Inherited ArrhythmiaLQTSrs199472863SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Long-term follow-up of notched T waves in female patients with LQT2 (HERG) mutations. Jpn Heart J. 2004 45(2):243-50. 15090700
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