Paralogue Annotation for KCNH2 residue 251

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 251
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 251

No paralogue variants have been mapped to residue 251 for KCNH2.



KCNH2-------------P--PRSA--PGQLPS-->P<RAHSLNPDASGSS------CSL----ARTR271
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<--------------------RY----GRAR159
KCNH4------------------------------>-<--------------------SL----GRRG160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7-------------CSPLVNISGPLDHSSPK>R<QWDRLYPDMLQSS------SQL----SHSR262
KCNH8------------------------------>-<--------------------VK----GRSR155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EENPPSTVLPPPSPA---KS---------->-<-------DTLIVPSSASGTHRKKLPSEDDE521
CNGB3------------------------------>-<-----------VP-----------------99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P251Ac.751C>G Putative Benignrs199472873SIFT: 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
p.P251Sc.751C>T Inherited ArrhythmiaLQTSrs199472873SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944