Paralogue Annotation for KCNH2 residue 1152

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1152
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1152

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN4E1193QBrugada syndromeLow2 26230511

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-LH>R<HGSDPG------------------------1158
KCNH1-------------SQSP---QELFEISRPQ>S<PESERDIFGA--------------------988
KCNH3----PPPSEEGAR-TGP---AEPVSQAEAT>S<TGEPPPGSGGLALPWDPHSLEMVLIGCHGS1070
KCNH4----PSPVPEASPPTPS---LLRHSFQSRS>D<TF----------------------------1016
KCNH5-----PLQVP--PQIPC---QDIFSVSRPE>S<PESDKDEIH---------------------987
KCNH6------P-CFSSLPEHL---GSVPKQLDFQ>R<HGSDPGFAGSWG------------------993
KCNH7------PIRHPSLPDSS---LSTVGIVGLH>R<HVSDPGLPG---------------------1195
KCNH8HLVLPSRSEEGSFSQGT---VSSFSLENLP>G<SWNQEGMASASTKPLENLPLEVVTS-----1095
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1-----------MSPGPEPGEQILSVKMPEE>R<EE-KAE------------------------1251
CNGB3-----------MAPSAEGGEEVLTIEVKEK>A<KQ----------------------------809
HCN1---------AAALPRES---SSVLNTD-P->D<AEKP-RFASN--------------------889
HCN2---------DSASPGAA---GG---LD-PQ>D<SARS-RLSSN--------------------888
HCN3---------EPATP---------------->-<-RGL-QLSAN--------------------773
HCN4---------LTAGPQRE---PG---AR-P->E<PVRS-KLPSN--------------------1202
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 1152 for KCNH2.