Paralogue Annotation for KCNH2 residue 1153

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1153
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1153

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN1A881TIdiopathic epilepsy, generalised ?Low2 17931874

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.



KCNH2-----PTRRLSLPGQL---GALTSQP-LHR>H<GSDPG-------------------------1158
KCNH1------------SQSP---QELFEISRPQS>P<ESERDIFGA---------------------988
KCNH3---PPPSEEGAR-TGP---AEPVSQAEATS>T<GEPPPGSGGLALPWDPHSLEMVLIGCHGSG1071
KCNH4---PSPVPEASPPTPS---LLRHSFQSRSD>T<F-----------------------------1016
KCNH5----PLQVP--PQIPC---QDIFSVSRPES>P<ESDKDEIH----------------------987
KCNH6-----P-CFSSLPEHL---GSVPKQLDFQR>H<GSDPGFAGSWG-------------------993
KCNH7-----PIRHPSLPDSS---LSTVGIVGLHR>H<VSDPGLPG----------------------1195
KCNH8LVLPSRSEEGSFSQGT---VSSFSLENLPG>S<WNQEGMASASTKPLENLPLEVVTS------1095
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1----------MSPGPEPGEQILSVKMPEER>E<E-KAE-------------------------1251
CNGB3----------MAPSAEGGEEVLTIEVKEKA>K<Q-----------------------------809
HCN1--------AAALPRES---SSVLNTD-P-D>A<EKP-RFASN---------------------889
HCN2--------DSASPGAA---GG---LD-PQD>S<ARS-RLSSN---------------------888
HCN3--------EPATP----------------->-<RGL-QLSAN---------------------773
HCN4--------LTAGPQRE---PG---AR-P-E>P<VRS-KLPSN---------------------1202
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H1153Yc.3457C>T Inherited ArrhythmiaLQTSrs199473035SIFT: deleterious
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
Other Cardiac Phenotype Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. Forensic Sci Int. 2015 254:5-11. doi: 10.1016/j.forsciint.2015.06.023. 26164358