Results for the protein: Q9Y617

Results for the Protein: Q9Y617

20141815

29968

PSAT1

NCBI, UniProt

SERC_HUMAN RecName: Full=Phosphoserine aminotransferase; AltName: Full=Phosphohydroxythreonine aminotransferase; Short=PSAT

Known Diseases associated with this Protein:
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (PSATD)

2

1

1

0

2

Tips:

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Default View: COG0075 - COG0075 SerC - COG1932 Aminotran_5 - pfam00266 PSAT_like - cd00611 AGAT_like - cd06451 AAT_I - cd01494	Swiss-Prot Protein: Q9Y617 Identical to: NP_478059 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SerC	COG1932	1.1e-177	2	369
PSAT_like	cd00611	1.4e-265	8	366
AGAT_like	cd06451	0.00085	10	366
AAT_I	cd01494	0.00015	52	213
Aminotran_5	pfam00266	1e-83	7	357

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_037252	Disease	p.ASP100ALA	Phosphoserine aminotransferase deficiency (PSATD)
Swiss-Prot	VAR_048235	Polymorphism	p.PRO87ALA	N/A
OMIM	610936.0002	Disease	p.ASP100ALA	PHOSPHOSERINE AMINOTRANSFERASE 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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