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Results for the Protein: P13686
56757583
54

PPA5_HUMAN RecName: Full=Tartrate-resistant acid phosphatase type 5; Short=TR-AP; AltName: Full=Tartrate-resistant acid ATPase; Short=TrATPase; AltName: Full=Type 5 acid phosphatase; Flags: Precursor

Known Diseases associated with this Protein:
  SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
  SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (SPENCDI)
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Default View:

MPP_PAPs - cd00839
Metallophos - pfam00149
MPP_Nbla03831 - cd07396
MPP_ACP5 - cd07378
MPP_superfamily - cd00838
MPP_YydB - cd07400




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MPP_PAPscd008393e-0522316
MPP_ACP5cd073782.3e-15626311
MPP_Nbla03831cd073960.0009226284
MPP_superfamilycd008381.2e-2729259
MPP_YydBcd074008.3e-0636262
Metallophospfam001492.8e-2426244

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065926Diseasep.ASN262HISSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
dbSNPrs62638748 Polymorphismp.ASP287ALAN/A
Swiss-ProtVAR_065925Diseasep.ASP241ASNSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-ProtVAR_065922Diseasep.GLY109ARGSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-ProtVAR_065924Diseasep.GLY215ARGSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-ProtVAR_065923Diseasep.LEU201PROSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-ProtVAR_065920Diseasep.LYS52METSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-ProtVAR_065927Diseasep.MET264LYSSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Swiss-ProtVAR_065921Diseasep.THR89ILESpondyloenchondrodysplasia with immune dysregulation (SPENCDI)
dbSNPrs2229532 Polymorphismp.VAL221ILEN/A
dbSNPrs2305799 Polymorphismp.VAL148METN/A
dbSNPrs2229531 Polymorphismp.VAL200METN/A
OMIM171640.0002 Diseasep.GLN223TERSPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM171640.0005 Diseasep.GLY109ARGSPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM171640.0004 Diseasep.GLY215ARGSPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM171640.0007 Diseasep.LEU201PROSPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM171640.0003 Diseasep.MET264LYSSPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
OMIM171640.0001 Diseasep.THR89ILESPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION



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