ID   BCH-30
AC   CVCL_UE98
DR   PRIDE; PXD006215
DR   Wikidata; Q93424028
RX   PubMed=28446606;
CC   Population: Caucasian; Spanish.
CC   HLA typing: A*02:01; B*51:08,40:01; C*16:02,03 (PubMed=28446606).
CC   Sequence variation: Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Met349Val (c.1045A>G); dbSNP=rs2287987; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
CC   Sequence variation: Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Lys528Arg (c.1583A>G); dbSNP=rs30187; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
CC   Sequence variation: Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Asp575Asn (c.1723G>A); dbSNP=rs10050860; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
CC   Sequence variation: Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Arg725Gln (c.2174G>A); dbSNP=rs17482078; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
CC   Sequence variation: Mutation; HGNC; HGNC:18173; ERAP1; Simple; p.Gln730Glu (c.2188C>G); dbSNP=rs27044; Zygosity=Homozygous; Note=Allele ERAP1*001/Hap10 (PubMed=28446606).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34416; Behcet syndrome
DI   ORDO; Orphanet_117; Behcet disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=28446606; DOI=10.1074/jbc.M117.789180; PMCID=PMC5465491;
RA   Guasp P., Barnea E., Gonzalez-Escribano M.F., Jimenez-Reinoso A.,
RA   Regueiro J.R., Admon A., Lopez de Castro J.A.;
RT   "The Behcet's disease-associated variant of the aminopeptidase ERAP1
RT   shapes a low-affinity HLA-B*51 peptidome by differential subpeptidome
RT   processing.";
RL   J. Biol. Chem. 292:9680-9689(2017).
//