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Results for the Protein: Q9Y617
20141815

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:
 The Domains on the Default View are decided by the Domain's E-Value.

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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 ↕
COG0075COG00753.2e-051366
SerCCOG19321.1e-1772369
PSAT_likecd006111.4e-2658366
AGAT_likecd064510.0008510366
AAT_Icd014940.0001552213
Aminotran_5pfam002661e-837357

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037252Diseasep.ASP100ALAPhosphoserine aminotransferase deficiency (PSATD)
Swiss-ProtVAR_048235Polymorphismp.PRO87ALAN/A
OMIM610936.0002 Diseasep.ASP100ALAPHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY



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