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Results for the Protein: P53634
317373330

CATC_HUMAN RecName: Full=Dipeptidyl peptidase 1; AltName: Full=Cathepsin C; AltName: Full=Cathepsin J; AltName: Full=Dipeptidyl peptidase I; Short=DPP-I; Short=DPPI; AltName: Full=Dipeptidyl transferase; Contains: RecName: Full=Dipeptidyl peptidase 1 exclusion domain chain; AltName: Full=Dipeptidyl peptidase I exclusion domain chain; Contains: RecName: Full=Dipeptidyl peptidase 1 heavy chain; AltName: Full=Dipeptidyl peptidase I heavy chain; Contains: RecName: Full=Dipeptidyl peptidase 1 light chain; AltName: Full=Dipeptidyl peptidase I light chain; Flags: Precursor

Known Diseases associated with this Protein:
  PAPILLON-LEFEVRE SYNDROME (PLS)
  PERIODONTITITIS, AGGRESSIVE, 1 (AP1)
27
3
0
0
30
Tips:
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Default View:

CathepsinC_exc - pfam08773
COG4870 - COG4870
Peptidase_C1A_Cathep - cd02621
Pept_C1 - smart00645
Peptidase_C1 - pfam00112
Peptidase_C1A_Cathep - cd02698
Peptidase_C1A_Cathep - cd02620
Peptidase_C1A - cd02248
Peptidase_C1 - cd02619


Swiss-Prot Protein: P53634
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_C1A_Cathepcd026211.7e-154231460
Peptidase_C1A_Cathepcd026981.2e-40231460
Peptidase_C1Acd022482e-89232457
Peptidase_C1A_Cathepcd026201.7e-56232457
Peptidase_C1cd026192.1e-56234456
COG4870COG48700.00049122459
Peptidase_C1pfam001128e-80231458
CathepsinC_excpfam087732e-8625142
Pept_C1smart006457.8e-87231458

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009545Diseasep.ARG339CYSPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019039Diseasep.ARG272HISPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_009543Diseasep.ARG272PROPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019038Diseasep.ASP236TYRPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019040Diseasep.CYS291TYRPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_016935Diseasep.GLN286ARGPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019045Diseasep.GLN312ARGPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_009542Diseasep.GLN252LEUPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019046Diseasep.GLU319GLYPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019048Diseasep.GLU447GLYPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_016945Polymorphismp.GLU401LYSN/A
Swiss-ProtVAR_019037Diseasep.GLY139ARGPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019041Diseasep.GLY300ASPPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019042Diseasep.GLY300SERPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_009544Diseasep.GLY301SERPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019043Diseasep.GLY301VALPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_027250Diseasep.HIS405ARGPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_027249Diseasep.HIS405ASNPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_016934Diseasep.HIS127PROPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_016943Polymorphismp.ILE153THRN/A
Swiss-ProtVAR_016946Polymorphismp.ILE453VALN/A
Swiss-ProtVAR_016936Diseasep.TRP429CYSPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_016933Diseasep.TRP39SERPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019044Diseasep.TYR304ASNPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_016944Diseasep.TYR340CYSPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_009546Diseasep.TYR347CYSPeriodontititis, aggressive, 1 (AP1)
Swiss-ProtVAR_019047Diseasep.TYR412CYSPeriodontititis, aggressive, 1 (AP1)
Swiss-ProtVAR_039686Diseasep.TYR294HISPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_019036Diseasep.VAL129GLUPapillon-Lefevre syndrome (PLS)
Swiss-ProtVAR_009541Diseasep.VAL249PHEPapillon-Lefevre syndrome (PLS)



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