Paralogue Annotation for KCNH2 residue 95

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 95
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 95

No paralogue variants have been mapped to residue 95 for KCNH2.



KCNH2---------------GAEE-R-------KV>E<-IAFYRK-----------DGS---------104
KCNH1---------------NYEM-N-------SF>E<-ILMYKK-----------NRT---------105
KCNH3---------------EHKE-F-------KA>E<-LILYRK-----------SGL---------105
KCNH4---------------GHQE-H-------RA>E<-ICFYRK-----------DGS---------105
KCNH5---------------NYES-N-------CF>E<-VLLYKK-----------NRT---------103
KCNH6---------------GAEE-C-------KV>D<-ILYYRK-----------DAS---------104
KCNH7---------------GSEE-R-------KV>E<-VTYYHK-----------NGS---------104
KCNH8---------------EKTE-F-------KG>E<-IMFYKK-----------NGS---------105
CNGA1---------------EDDD-SASTSEESEN>E<N-PHA-R-----------GSF---------66
CNGA2---------------AADDDTSSE------>-<--LQR-L-----------ADV---------56
CNGA3---------------SSEE-TSSVLQPGIA>M<E-TRG-L-----------ADS---------60
CNGA4------------------------------>-<------------------------------
CNGB1---------------AQDT-R-------PG>L<RLLLWLEQNLERVLPQPPKSSEVWRDEPAV186
CNGB3------------------------------>-<------------------------------
HCN1AAEKRLGTPPGGGGAGAKE-H-------GN>S<-VCFKVD-----------------------62
HCN2GECGRGEPQCSPAGPEGPA-R-------GP>K<-VSFSCR-----------------------128
HCN3------------------------------>-<--APPPA-----------------------30
HCN4------------------------------>-<---ASCE-----------------------180
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E95Gc.284A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067
p.E95Kc.283G>A Putative BenignSIFT:
Polyphen:
p.Glu95Alac.284A>C UnknownSIFT:
Polyphen: