Paralogue Annotation for KCNH2 residue 190

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 190
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 190

No paralogue variants have been mapped to residue 190 for KCNH2.



KCNH2AKTFRLKLPALLALTARESSVRSGGAGGAG>A<PGAVVVDVDLTPAAPSSESLALDEVTAMDN220
KCNH1CKGWG------------------------->-<------------------------------149
KCNH3WKETGGGRR--------------------->-<------------------------------153
KCNH4GRGDSNHEN--------------------->-<------------------------------154
KCNH5TKGWT------------------------->-<------------------------------147
KCNH6SRSLSQRLLSQSFLGSEGSHGRPGGPG--->-<------------------------------167
KCNH7RKFFGFKFPGLRVLTYRKQSLPQEDPD--->-<--VVVIDS----SKHSDDSVAMKHFKSPTK205
KCNH8---DKKEDK--------------------->-<------------------------------149
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1QSTSDQKLWEEVGEEAKKEAEEKAKEEAEE>V<AEEEAEKEPQDWAETKEEPEAEAEAASSGV458
CNGB3SNQSQQ----TTAQEENKGEEKSLKTKSTP>V<TSEEPHTNIQDKLSKKN---------SSGD81
HCN1PAGG---F---------------------->-<------------------------------81
HCN2EAGSEEAG---------------------->-<------------------------------150
HCN3-------G---------------------->-<------------------------------41
HCN4-AAGDQIL---------------------->-<------------------------------201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A190Tc.568G>A Putative Benignrs150817714SIFT: 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