Results for the protein: P60891

Results for the Protein: P60891

46397477

5631

PRPS1

NCBI, UniProt

PRPS1_HUMAN RecName: Full=Ribose-phosphate pyrophosphokinase 1; AltName: Full=PPRibP; AltName: Full=Phosphoribosyl pyrophosphate synthase I; Short=PRS-I

Known Diseases associated with this Protein:
  ARTS SYNDROME
  ARTS SYNDROME (ARTS)
  ARTS SYNDROME AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (CMTX5)
  DEAFNESS, X-LINKED 1
  DEAFNESS, X-LINKED, 1 (DFNX1)
  PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
  PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPS1 SUPERACTIVITY)

29

3

15

0

17

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Default View: PrsA - COG0462 Pribosyltran - pfam00156	Swiss-Prot Protein: P60891 Identical to: NP_002755 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pribosyltran	pfam00156	6.9e-07	143	250

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063523	Disease	p.ALA87THR	Deafness, X-linked, 1 (DFNX1)
Swiss-Prot	VAR_016046	Disease	p.ALA190VAL	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Swiss-Prot	VAR_004163	Disease	p.ASN114SER	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Swiss-Prot	VAR_063522	Disease	p.ASP65ASN	Deafness, X-linked, 1 (DFNX1)
Swiss-Prot	VAR_004164	Disease	p.ASP183HIS	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Swiss-Prot	VAR_036593	Polymorphism	p.ASP203HIS	N/A
Swiss-Prot	VAR_016044	Disease	p.ASP52HIS	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Swiss-Prot	VAR_036943	Disease	p.GLN133PRO	ARTS syndrome (ARTS)
Swiss-Prot	VAR_036941	Disease	p.GLU43ASP	Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5)
Swiss-Prot	VAR_063525	Disease	p.GLY306ARG	Deafness, X-linked, 1 (DFNX1)
Swiss-Prot	VAR_036595	Polymorphism	p.HIS231ASP	N/A
Swiss-Prot	VAR_016047	Disease	p.HIS193GLN	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Swiss-Prot	VAR_063524	Disease	p.ILE290THR	Deafness, X-linked, 1 (DFNX1)
Swiss-Prot	VAR_016045	Disease	p.LEU129ILE	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
Swiss-Prot	VAR_036944	Disease	p.LEU152PRO	ARTS syndrome (ARTS)
Swiss-Prot	VAR_036942	Disease	p.MET115THR	Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5)
Swiss-Prot	VAR_036594	Polymorphism	p.VAL219GLY	N/A
OMIM	311850.0014	Disease	p.ALA87THR	DEAFNESS, X-LINKED 1
OMIM	311850.0007	Disease	p.ALA189VAL	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	311850.0001	Disease	p.ASN113SER	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	311850.0013	Disease	p.ASP65ASN	DEAFNESS, X-LINKED 1
OMIM	311850.0002	Disease	p.ASP182HIS	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	311850.0003	Disease	p.ASP51HIS	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	311850.0012	Disease	p.GLN133PRO	ARTS SYNDROME
OMIM	311850.0009	Disease	p.GLU43ASP	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
OMIM	311850.0015	Disease	p.GLY306ARG	DEAFNESS, X-LINKED 1
OMIM	311850.0008	Disease	p.HIS192GLN	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	311850.0016	Disease	p.ILE290THR	DEAFNESS, X-LINKED 1
OMIM	311850.0005	Disease	p.LEU128ILE	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	311850.0011	Disease	p.LEU152PRO	ARTS SYNDROME
OMIM	311850.0010	Disease	p.MET115THR	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
OMIM	311850.0017	Disease	p.VAL142LEU	ARTS SYNDROME AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

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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