Results for the protein: P10746

Results for the Protein: P10746

122849

7390

UROS

NCBI, UniProt

HEM4_HUMAN RecName: Full=Uroporphyrinogen-III synthase; Short=UROIIIS; Short=UROS; AltName: Full=Hydroxymethylbilane hydrolyase [cyclizing]; AltName: Full=Uroporphyrinogen-III cosynthase

Known Diseases associated with this Protein:
CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP)
PORPHYRIA, CONGENITAL ERYTHROPOIETIC

33

2

12

1

22

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Default View: HemD - COG1587 HemD - cd06578 HEM4 - pfam02602	Swiss-Prot Protein: P10746 Identical to: NP_000366 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HemD	cd06578	1.4e-53	3	255
HEM4	pfam02602	8.4e-43	17	253

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_021617	Disease	p.ALA69THR	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003682	Disease	p.ALA104VAL	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003678	Disease	p.ALA66VAL	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003679	Disease	p.CYS73ARG	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_013558	Disease	p.GLY188ARG	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003684	Disease	p.GLY225SER	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_021619	Disease	p.GLY188TRP	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_021621	Disease	p.ILE219SER	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_021618	Disease	p.ILE129THR	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003674	Disease	p.LEU4PHE	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_067318	Disease	p.LEU237PRO	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_049345	Polymorphism	p.LYS124ARG	N/A
Swiss-Prot	VAR_066247	Disease	p.PRO248GLN	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003676	Disease	p.PRO53LEU	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003683	Disease	p.SER212PRO	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_021616	Disease	p.SER47PRO	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003677	Disease	p.THR62ALA	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003685	Disease	p.THR228MET	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003675	Disease	p.TYR19CYS	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003681	Disease	p.VAL99ALA	Congenital erythropoietic porphyria (CEP)
dbSNP	rs17173752	Polymorphism	p.VAL171GLY	N/A
Swiss-Prot	VAR_021615	Disease	p.VAL3PHE	Congenital erythropoietic porphyria (CEP)
Swiss-Prot	VAR_003680	Disease	p.VAL82PHE	Congenital erythropoietic porphyria (CEP)
OMIM	606938.0003	Disease	p.ALA66VAL	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0001	Disease	p.CYS73ARG	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0011	Disease	p.GLU81ASP	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0010	Disease	p.GLY188ARG	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0017	Disease	p.GLY225SER	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0012	Disease	p.GLY188TRP	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0006	Disease	p.LEU4PHE	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0020	Disease	p.PRO248GLN	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0002	Disease	p.PRO53LEU	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0004	Disease	p.THR62ALA	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0005	Disease	p.THR228MET	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM	606938.0009	Disease	p.VAL82PHE	PORPHYRIA, CONGENITAL ERYTHROPOIETIC

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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