Paralogue Annotation for KCNH2 residue 1005

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1005
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1005

No paralogue variants have been mapped to residue 1005 for KCNH2.



KCNH2----------------------FWGDS--->R<----G-----------------------RQ1008
KCNH1----------------------FKDAC--->G<------------------------------845
KCNH3----------------------GCGSD--->Q<----------------------------PK838
KCNH4----------------------SGSTA--->E<----A-----------------------PS842
KCNH5----------------------LKNNM--->G<----A-----------------------HE822
KCNH6----------------------LLQKP--->M<----P-----------------------QG858
KCNH7----------------------QPEDS--->S<----P-----------------------SA1011
KCNH8----------------------GNSSE--->E<----S-----------------------QT828
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<----------------------------GR565
CNGB1----------------------TDPPA--->-<----------------------------PR1187
CNGB3----------------------EDKDK--->-<----------------------------GR744
HCN1---------------------QQPQ----->-<--------------QQ-------------V738
HCN2-----------------------PG----->-<--------------A-P-------------784
HCN3---------------------RLPA----->-<--------------PP----------ARTL679
HCN4PPGELSLGLATGPLSTPETPPRQPEPPSLV>A<GASGGASPVGFTPRGGLSPPGHSPGPPRTF1038
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1005Qc.3014G>A Inherited ArrhythmiaLQTSrs199473019SIFT: tolerated
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