Results for the protein: P08397

Results for the Protein: P08397

1170217

3145

HMBS

NCBI, UniProt

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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Default View:	Swiss-Prot Protein: P08397 Identical to: NP_000181 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_011018	Disease	p.ALA219ASP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011024	Disease	p.ALA270ASP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025572	Disease	p.ALA122GLY	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011025	Disease	p.ALA270GLY	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011004	Disease	p.ALA31PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003642	Disease	p.ALA55SER	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003667	Disease	p.ALA252THR	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003640	Disease	p.ALA31THR	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003668	Disease	p.ALA252VAL	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003656	Disease	p.ARG195CYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003638	Disease	p.ARG22CYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011002	Disease	p.ARG26CYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003646	Disease	p.ARG116GLN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003650	Disease	p.ARG149GLN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003651	Disease	p.ARG167GLN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003653	Disease	p.ARG173GLN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025574	Disease	p.ARG225GLN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003660	Disease	p.ARG225GLY	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003639	Disease	p.ARG26HIS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003649	Disease	p.ARG149LEU	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003647	Disease	p.ARG116TRP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003652	Disease	p.ARG167TRP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003654	Disease	p.ARG173TRP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003657	Disease	p.ARG201TRP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011012	Disease	p.ASP178ASN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011008	Disease	p.ASP61ASN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025570	Disease	p.ASP99ASN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025568	Disease	p.ASP99GLY	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025569	Disease	p.ASP99HIS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025560	Disease	p.ASP61TYR	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003664	Disease	p.CYS247ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003663	Disease	p.CYS247PHE	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025579	Disease	p.CYS261TYR	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025559	Disease	p.GLN34ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011016	Disease	p.GLN217HIS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011017	Disease	p.GLN217LEU	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003641	Disease	p.GLN34LYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011005	Disease	p.GLN34PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003665	Disease	p.GLU250ALA	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011020	Disease	p.GLU250GLN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025562	Disease	p.GLU80GLY	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011014	Disease	p.GLU209LYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003659	Disease	p.GLU223LYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003666	Disease	p.GLU250LYS	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011021	Disease	p.GLU250VAL	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025564	Disease	p.GLU86VAL	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003645	Disease	p.GLY111ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003671	Disease	p.GLY274ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003673	Disease	p.GLY280ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011015	Disease	p.GLY216ASP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025578	Disease	p.GLY260ASP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011028	Disease	p.GLY335ASP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025575	Disease	p.GLY236SER	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011001	Disease	p.GLY24SER	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011029	Disease	p.GLY335SER	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003669	Disease	p.HIS256ASN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011022	Disease	p.HIS256TYR	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025571	Disease	p.ILE113THR	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003655	Disease	p.LEU177ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003661	Disease	p.LEU238ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003662	Disease	p.LEU245ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011009	Disease	p.LEU85ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025576	Disease	p.LEU244PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025577	Disease	p.LEU254PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003672	Disease	p.LEU278PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025580	Disease	p.LEU343PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025563	Disease	p.LEU81PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025565	Disease	p.LEU92PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011007	Disease	p.LEU42SER	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003644	Disease	p.LYS98ARG	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025558	Disease	p.MET18ILE	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025573	Disease	p.MET212VAL	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003648	Disease	p.PRO119LEU	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011003	Disease	p.SER28ASN	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025567	Disease	p.SER96PHE	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003670	Disease	p.THR269ILE	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011006	Disease	p.THR35MET	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_025561	Disease	p.THR78PRO	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011011	Disease	p.VAL124ASP	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011010	Disease	p.VAL90GLY	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011013	Disease	p.VAL202LEU	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003658	Disease	p.VAL222MET	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_011023	Disease	p.VAL267MET	Acute intermittent porphyria (AIP)
Swiss-Prot	VAR_003643	Disease	p.VAL93PHE	Acute intermittent porphyria (AIP)
OMIM	609806.0018	Disease	p.ALA55SER	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0032	Disease	p.ALA252THR	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0016	Disease	p.ALA31THR	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0033	Disease	p.ALA252VAL	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0008	Disease	p.ARG149GLN	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0005	Disease	p.ARG167GLN	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0006	Disease	p.ARG173GLN	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0015	Disease	p.ARG26HIS	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0014	Disease	p.ARG167LEU	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0046	Disease	p.ARG149TER	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0004	Disease	p.ARG116TRP	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0013	Disease	p.ARG167TRP	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0026	Disease	p.ARG201TRP	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0029	Disease	p.CYS247ARG	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0017	Disease	p.GLN34LYS	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0007	Disease	p.GLN155TER	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0027	Disease	p.GLU223LYS	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0031	Disease	p.GLU250LYS	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0023	Disease	p.GLY111ARG	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0038	Disease	p.GLY216ASP	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0034	Disease	p.HIS256ASN	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0025	Disease	p.LEU177ARG	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0009	Disease	p.LEU245ARG	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0045	Disease	p.LEU81PRO	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0044	Disease	p.MET1VAL	PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT
OMIM	609806.0012	Disease	p.TRP198TER	PORPHYRIA, ACUTE INTERMITTENT
OMIM	609806.0043	Disease	p.TRP283TER	PORPHYRIA, ACUTE INTERMITTENT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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