Paralogue Annotation for KCNH2 residue 187

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 187
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 187

No paralogue variants have been mapped to residue 187 for KCNH2.



KCNH2PGRAKTFRLKLPALLALTARESSVRSGGAG>G<AGAPGAVVVDVDLTPAAPSSESLALDEVTA217
KCNH1---CKGWG---------------------->-<------------------------------149
KCNH3---WKETGGGRR------------------>-<------------------------------153
KCNH4---GRGDSNHEN------------------>-<------------------------------154
KCNH5---TKGWT---------------------->-<------------------------------147
KCNH6KCSSRSLSQRLLSQSFLGSEGSHGRPGGPG>-<------------------------------167
KCNH7TVNRKFFGFKFPGLRVLTYRKQSLPQEDPD>-<-----VVVIDS----SKHSDDSVAMKHFKS202
KCNH8------DKKEDK------------------>-<------------------------------149
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1TRPQSTSDQKLWEEVGEEAKKEAEEKAKEE>A<EEVAEEEAEKEPQDWAETKEEPEAEAEAAS455
CNGB3SHPSNQSQQ----TTAQEENKGEEKSLKTK>S<TPVTSEEPHTNIQDKLSKKN---------S78
HCN1---PAGG---F------------------->-<------------------------------81
HCN2---EAGSEEAG------------------->-<------------------------------150
HCN3----------G------------------->-<------------------------------41
HCN4----AAGDQIL------------------->-<------------------------------201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G187Sc.559G>A Putative Benignrs199472867SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300