Paralogue Annotation for KCNH2 residue 181

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 181
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 181

No paralogue variants have been mapped to residue 181 for KCNH2.



KCNH2PTSWLAPGRAKTFRLKLPALLALTARESSV>R<SGGAGGAGAPGAVVVDVDLTPAAPSSESLA211
KCNH1---------CKGWG---------------->-<------------------------------149
KCNH3---------WKETGGGRR------------>-<------------------------------153
KCNH4---------GRGDSNHEN------------>-<------------------------------154
KCNH5---------TKGWT---------------->-<------------------------------147
KCNH6----LAKCSSRSLSQRLLSQSFLGSEGSHG>R<PGGPG-------------------------167
KCNH7PILPIKTVNRKFFGFKFPGLRVLTYRKQSL>P<QEDPD------VVVIDS----SKHSDDSVA196
KCNH8------------DKKEDK------------>-<------------------------------149
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1QSEEDGTRPQSTSDQKLWEEVGEEAKKEAE>E<KAKEEAEEVAEEEAEKEPQDWAETKEEPEA449
CNGB3RRNEEGSHPSNQSQQ----TTAQEENKGEE>K<SLKTKSTPVTSEEPHTNIQDKLSKKN----77
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.R181Qc.542G>A Benignrs41308954SIFT: tolerated
Polyphen: possibly damaging
ReportsBenign 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
Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510