Paralogue Annotation for KCNH2 residue 1157

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1157
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1157

No paralogue variants have been mapped to residue 1157 for KCNH2.



KCNH2-PTRRLSLPGQL---GALTSQP-LHRHGSD>P<G-----------------------------1158
KCNH1--------SQSP---QELFEISRPQSPESE>R<DIFGA-------------------------988
KCNH3PPSEEGAR-TGP---AEPVSQAEATSTGEP>P<PGSGGLALPWDPHSLEMVLIGCHGSGTVQW1075
KCNH4SPVPEASPPTPS---LLRHSFQSRSDTF-->-<------------------------------1016
KCNH5PLQVP--PQIPC---QDIFSVSRPESPESD>K<DEIH--------------------------987
KCNH6-P-CFSSLPEHL---GSVPKQLDFQRHGSD>P<GFAGSWG-----------------------993
KCNH7-PIRHPSLPDSS---LSTVGIVGLHRHVSD>P<GLPG--------------------------1195
KCNH8SRSEEGSFSQGT---VSSFSLENLPGSWNQ>E<GMASASTKPLENLPLEVVTS------TAEV1099
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------MSPGPEPGEQILSVKMPEEREE-K>A<E-----------------------------1251
CNGB3------MAPSAEGGEEVLTIEVKEKAKQ-->-<------------------------------809
HCN1----AAALPRES---SSVLNTD-P-DAEKP>-<RFASN-------------------------889
HCN2----DSASPGAA---GG---LD-PQDSARS>-<RLSSN-------------------------888
HCN3----EPATP------------------RGL>-<QLSAN-------------------------773
HCN4----LTAGPQRE---PG---AR-P-EPVRS>-<KLPSN-------------------------1202
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1157Lc.3470C>T Other Cardiac Phenotypers143167166SIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res. 2005 67(3):388-96. 15913580
Other Cardiac Phenotype Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283
Other Cardiac Phenotype 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