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Results for the Protein: Q9NQH7
74761652

XPP3_HUMAN RecName: Full=Probable Xaa-Pro aminopeptidase 3; Short=X-Pro aminopeptidase 3; AltName: Full=Aminopeptidase P3; Short=APP3

Known Diseases associated with this Protein:
  NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
  NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (NPHPL1)
2
1
1
0
2
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Default View:

AMP_N - pfam05195
PepP - COG0006
Map - COG0024
CDC68-like - cd01091
APP-like - cd01092
Prolidase - cd01087
APP_MetAP - cd01066
MetAP1 - cd01086
Peptidase_M24 - pfam00557
APP - cd01085


Swiss-Prot Protein: Q9NQH7
Identical to: NP_071381
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MapCOG00241.7e-05241494
APP_MetAPcd010662.4e-33252485
MetAP1cd010866.9e-05252490
Prolidasecd010872.3e-131252490
CDC68-likecd010916.2e-05252490
APP-likecd010926.7e-17252485
APPcd010853.8e-05259490
Peptidase_M24pfam005573.8e-71253482
AMP_Npfam051952.1e-5267213

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063820Diseasep.GLY453CYSNephronophthisis-like nephropathy 1 (NPHPL1)
Swiss-ProtVAR_051573Polymorphismp.ILE450LEUN/A
OMIM613553.0001 Diseasep.GLY453CYSNEPHRONOPHTHISIS-LIKE NEPHROPATHY 1



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