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Results for the Protein: P08397
1170217

HEM3_HUMAN RecName: Full=Porphobilinogen deaminase; Short=PBG-D; AltName: Full=Hydroxymethylbilane synthase; Short=HMBS; AltName: Full=Pre-uroporphyrinogen synthase

Known Diseases associated with this Protein:
  ACUTE INTERMITTENT PORPHYRIA (AIP)
  PORPHYRIA, ACUTE INTERMITTENT
  PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT
111
0
27
0
84
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Swiss-Prot Protein: P08397
Identical to: NP_000181
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011018Diseasep.ALA219ASPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011024Diseasep.ALA270ASPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025572Diseasep.ALA122GLYAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011025Diseasep.ALA270GLYAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011004Diseasep.ALA31PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003642Diseasep.ALA55SERAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003667Diseasep.ALA252THRAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003640Diseasep.ALA31THRAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003668Diseasep.ALA252VALAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003656Diseasep.ARG195CYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003638Diseasep.ARG22CYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011002Diseasep.ARG26CYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003646Diseasep.ARG116GLNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003650Diseasep.ARG149GLNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003651Diseasep.ARG167GLNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003653Diseasep.ARG173GLNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025574Diseasep.ARG225GLNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003660Diseasep.ARG225GLYAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003639Diseasep.ARG26HISAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003649Diseasep.ARG149LEUAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003647Diseasep.ARG116TRPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003652Diseasep.ARG167TRPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003654Diseasep.ARG173TRPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003657Diseasep.ARG201TRPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011012Diseasep.ASP178ASNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011008Diseasep.ASP61ASNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025570Diseasep.ASP99ASNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025568Diseasep.ASP99GLYAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025569Diseasep.ASP99HISAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025560Diseasep.ASP61TYRAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003664Diseasep.CYS247ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003663Diseasep.CYS247PHEAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025579Diseasep.CYS261TYRAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025559Diseasep.GLN34ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011016Diseasep.GLN217HISAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011017Diseasep.GLN217LEUAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003641Diseasep.GLN34LYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011005Diseasep.GLN34PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003665Diseasep.GLU250ALAAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011020Diseasep.GLU250GLNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025562Diseasep.GLU80GLYAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011014Diseasep.GLU209LYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003659Diseasep.GLU223LYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003666Diseasep.GLU250LYSAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011021Diseasep.GLU250VALAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025564Diseasep.GLU86VALAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003645Diseasep.GLY111ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003671Diseasep.GLY274ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003673Diseasep.GLY280ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011015Diseasep.GLY216ASPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025578Diseasep.GLY260ASPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011028Diseasep.GLY335ASPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025575Diseasep.GLY236SERAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011001Diseasep.GLY24SERAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011029Diseasep.GLY335SERAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003669Diseasep.HIS256ASNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011022Diseasep.HIS256TYRAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025571Diseasep.ILE113THRAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003655Diseasep.LEU177ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003661Diseasep.LEU238ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003662Diseasep.LEU245ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011009Diseasep.LEU85ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025576Diseasep.LEU244PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025577Diseasep.LEU254PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003672Diseasep.LEU278PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025580Diseasep.LEU343PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025563Diseasep.LEU81PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025565Diseasep.LEU92PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011007Diseasep.LEU42SERAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003644Diseasep.LYS98ARGAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025558Diseasep.MET18ILEAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025573Diseasep.MET212VALAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003648Diseasep.PRO119LEUAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011003Diseasep.SER28ASNAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025567Diseasep.SER96PHEAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003670Diseasep.THR269ILEAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011006Diseasep.THR35METAcute intermittent porphyria (AIP)
Swiss-ProtVAR_025561Diseasep.THR78PROAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011011Diseasep.VAL124ASPAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011010Diseasep.VAL90GLYAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011013Diseasep.VAL202LEUAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003658Diseasep.VAL222METAcute intermittent porphyria (AIP)
Swiss-ProtVAR_011023Diseasep.VAL267METAcute intermittent porphyria (AIP)
Swiss-ProtVAR_003643Diseasep.VAL93PHEAcute intermittent porphyria (AIP)
OMIM609806.0018 Diseasep.ALA55SERPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0032 Diseasep.ALA252THRPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0016 Diseasep.ALA31THRPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0033 Diseasep.ALA252VALPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0008 Diseasep.ARG149GLNPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0005 Diseasep.ARG167GLNPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0006 Diseasep.ARG173GLNPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0015 Diseasep.ARG26HISPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0014 Diseasep.ARG167LEUPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0046 Diseasep.ARG149TERPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0004 Diseasep.ARG116TRPPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0013 Diseasep.ARG167TRPPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0026 Diseasep.ARG201TRPPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0029 Diseasep.CYS247ARGPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0017 Diseasep.GLN34LYSPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0007 Diseasep.GLN155TERPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0027 Diseasep.GLU223LYSPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0031 Diseasep.GLU250LYSPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0023 Diseasep.GLY111ARGPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0038 Diseasep.GLY216ASPPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0034 Diseasep.HIS256ASNPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0025 Diseasep.LEU177ARGPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0009 Diseasep.LEU245ARGPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0045 Diseasep.LEU81PROPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0044 Diseasep.MET1VALPORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT
OMIM609806.0012 Diseasep.TRP198TERPORPHYRIA, ACUTE INTERMITTENT
OMIM609806.0043 Diseasep.TRP283TERPORPHYRIA, ACUTE INTERMITTENT



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