Results for the protein: P32754

Results for the Protein: P32754

417144

3242

HPD

NCBI, UniProt

HPPD_HUMAN RecName: Full=4-hydroxyphenylpyruvate dioxygenase; AltName: Full=4-hydroxyphenylpyruvic acid oxidase; Short=4HPPD; Short=HPD; Short=HPPDase

Known Diseases associated with this Protein:
  HAWKINSINURIA
  TYROSINEMIA 3 (TYRO3)
  TYROSINEMIA, TYPE III

8

5

5

3

5

Tips:

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Default View: COG3185 - COG3185 Glyoxalase - pfam00903 HPPD_N_like - cd08342 Glo_EDI_BRP_like - cd06587 HPPD_C_like - cd07250	Swiss-Prot Protein: P32754 Identical to: NP_002141 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glo_EDI_BRP_like	cd06587	1e-09	21	146
HPPD_C_like	cd07250	3.3e-121	178	373
Glo_EDI_BRP_like	cd06587	9e-19	183	350
COG3185	COG3185	1.7e-41	1	385
Glyoxalase	pfam00903	0.001	18	149
Glyoxalase	pfam00903	1.8e-17	180	335

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015444	Polymorphism	p.ALA33THR	N/A
Swiss-Prot	VAR_015447	Disease	p.ALA268VAL	Tyrosinemia 3 (TYRO3)
dbSNP	rs11833399	Polymorphism	p.ARG113GLN	N/A
Swiss-Prot	VAR_015448	Disease	p.ILE335MET	Tyrosinemia 3 (TYRO3)
Swiss-Prot	VAR_015446	Polymorphism	p.ILE267PHE	N/A
dbSNP	rs1154510	Polymorphism	p.THR33ALA	N/A
Swiss-Prot	VAR_015445	Disease	p.TYR160CYS	Tyrosinemia 3 (TYRO3)
dbSNP	rs36023382	Polymorphism	p.VAL340LEU	N/A
OMIM	609695.0005	Disease	p.ALA33THR	HAWKINSINURIA
OMIM	609695.0004	Disease	p.ILE335MET	TYROSINEMIA, TYPE III
OMIM	609695.0001	Disease	p.TYR160CYS	TYROSINEMIA, TYPE III
OMIM	609695.0003	Disease	p.TYR200TER	TYROSINEMIA, TYPE III
OMIM	609695.0002	Disease	p.TYR258TER	TYROSINEMIA, TYPE III

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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