Results for the protein: O43175

Results for the Protein: O43175

21264510

26227

PHGDH

NCBI, UniProt

SERA_HUMAN RecName: Full=D-3-phosphoglycerate dehydrogenase; Short=3-PGDH

Known Diseases associated with this Protein:
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH DEFICIENCY)

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Default View: SerA - COG0111 LdhA - COG1052 2-Hacid_dh - pfam00389 2-Hacid_dh_C - pfam02826	Swiss-Prot Protein: O43175 Identical to: NP_006614 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LdhA	COG1052	2.8e-92	4	319
2-Hacid_dh	pfam00389	2.8e-123	9	317
2-Hacid_dh_C	pfam02826	3.4e-78	111	285

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_059028	Disease	p.ALA373THR	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
Swiss-Prot	VAR_059026	Disease	p.ARG135TRP	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
Swiss-Prot	VAR_059029	Disease	p.GLY377SER	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
dbSNP	rs77632964	Polymorphism	p.LEU199VAL	N/A
Swiss-Prot	VAR_059027	Disease	p.VAL261MET	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
Swiss-Prot	VAR_013461	Disease	p.VAL425MET	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
Swiss-Prot	VAR_059030	Disease	p.VAL490MET	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency)
OMIM	606879.0004	Disease	p.ARG135TRP	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
OMIM	606879.0005	Disease	p.GLY377SER	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
OMIM	606879.0006	Disease	p.VAL261MET	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
OMIM	606879.0002	Disease	p.VAL425MET	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
OMIM	606879.0001	Disease	p.VAL490MET	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY

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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