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Results for the Protein: NP_001159529
260593665

xaa-Pro dipeptidase isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  PROLIDASE DEFICIENCY
7
4
7
4
0
Tips:
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MapCOG00244.4e-05117407
APP_MetAPcd010661.9e-30128398
MetAP1cd010867.3e-05128403
Prolidasecd010872e-160128403
APP-likecd010922.2e-14128398
APPcd010853.8e-07137403
Peptidase_M24pfam005572.6e-81129395
AMP_Npfam051950.0006718129

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs76199755 rs2230062 Polymorphismp.ARG324HISN/A
dbSNPrs61748998 Polymorphismp.GLU106VALN/A
dbSNPrs17570 Polymorphismp.LEU371PHEN/A
dbSNPrs61734506 Polymorphismp.SER103ASNN/A
OMIM613230.0003 Diseasep.ARG120GLNPROLIDASE DEFICIENCY
OMIM613230.0008 Diseasep.ARG201TERPROLIDASE DEFICIENCY
OMIM613230.0001 Diseasep.ASP212ASNPROLIDASE DEFICIENCY
OMIM613230.0009 Diseasep.GLU348LYSPROLIDASE DEFICIENCY
OMIM613230.0005 Diseasep.GLY384ARGPROLIDASE DEFICIENCY
OMIM613230.0004 Diseasep.GLY214ASPPROLIDASE DEFICIENCY
OMIM613230.0011 Diseasep.SER138PHEPROLIDASE DEFICIENCY



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