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Results for the Protein: P12955
50403718

PEPD_HUMAN RecName: Full=Xaa-Pro dipeptidase; Short=X-Pro dipeptidase; AltName: Full=Imidodipeptidase; AltName: Full=Peptidase D; AltName: Full=Proline dipeptidase; Short=Prolidase

Known Diseases associated with this Protein:
  PROLIDASE DEFICIENCY
  PROLIDASE DEFICIENCY (PD)
11
4
7
4
4
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Default View:

AMP_N - pfam05195
PepP - COG0006
Map - COG0024
APP-like - cd01092
MetAP1 - cd01086
APP_MetAP - cd01066
Prolidase - cd01087
Peptidase_M24 - pfam00557
APP - cd01085


Swiss-Prot Protein: P12955
Identical to: NP_000276
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MapCOG00244.4e-05181471
APP_MetAPcd010661.9e-30192462
Prolidasecd010872e-160192467
MetAP1cd010867.3e-05192467
APP-likecd010922.2e-14192462
APPcd010853.8e-07201467
Peptidase_M24pfam005572.6e-81193459
AMP_Npfam051952.8e-4718157

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011614Diseasep.ARG184GLNProlidase deficiency (PD)
dbSNPrs76199755 rs2230062 Polymorphismp.ARG388HISN/A
Swiss-ProtVAR_004404Diseasep.ASP276ASNProlidase deficiency (PD)
dbSNPrs61748998 Polymorphismp.GLU170VALN/A
Swiss-ProtVAR_004405Diseasep.GLY448ARGProlidase deficiency (PD)
Swiss-ProtVAR_011615Diseasep.GLY278ASPProlidase deficiency (PD)
dbSNPrs17570 Polymorphismp.LEU435PHEN/A
dbSNPrs61734506 Polymorphismp.SER167ASNN/A
OMIM613230.0003 Diseasep.ARG184GLNPROLIDASE DEFICIENCY
OMIM613230.0008 Diseasep.ARG265TERPROLIDASE DEFICIENCY
OMIM613230.0001 Diseasep.ASP276ASNPROLIDASE DEFICIENCY
OMIM613230.0009 Diseasep.GLU412LYSPROLIDASE DEFICIENCY
OMIM613230.0005 Diseasep.GLY448ARGPROLIDASE DEFICIENCY
OMIM613230.0004 Diseasep.GLY278ASPPROLIDASE DEFICIENCY
OMIM613230.0011 Diseasep.SER202PHEPROLIDASE DEFICIENCY



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