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Results for the Protein: P78330
62906870

SERB_HUMAN RecName: Full=Phosphoserine phosphatase; Short=PSP; Short=PSPase; AltName: Full=L-3-phosphoserine phosphatase; AltName: Full=O-phosphoserine phosphohydrolase

Known Diseases associated with this Protein:
  PHOSPHOSERINE PHOSPHATASE DEFICIENCY
  PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPHD)
4
4
2
4
2
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Default View:

SerB - COG0560
COG4359 - COG4359
Hydrolase - pfam00702
HAD_like - cd01427


Swiss-Prot Protein: P78330
Identical to: NP_004568
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SerBCOG05601e-3210225
HAD_likecd014277.6e-1016196
COG4359COG43593.8e-0513211
Hydrolasepfam007024.4e-2214191

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs74445297 Polymorphismp.ARG27SERN/A
dbSNPrs79451216 Polymorphismp.ARG49TRPN/A
Swiss-ProtVAR_022378Diseasep.ASP32ASNPhosphoserine phosphatase deficiency (PSPHD)
dbSNPrs78599516 Polymorphismp.ASP32GLYN/A
Swiss-ProtVAR_022379Diseasep.MET52THRPhosphoserine phosphatase deficiency (PSPHD)
dbSNPrs79321413 Polymorphismp.PRO57SERN/A
OMIM172480.0001 Diseasep.ASP32ASNPHOSPHOSERINE PHOSPHATASE DEFICIENCY
OMIM172480.0002 Diseasep.MET52THRPHOSPHOSERINE PHOSPHATASE DEFICIENCY



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