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Results for the Protein: P43235
1168793

CATK_HUMAN RecName: Full=Cathepsin K; AltName: Full=Cathepsin O; AltName: Full=Cathepsin O2; AltName: Full=Cathepsin X; Flags: Precursor

Known Diseases associated with this Protein:
  PYCNODYSOSTOSIS
  PYCNODYSOSTOSIS (PKND)
11
0
7
0
4
Tips:
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Default View:

COG4870 - COG4870
Inhibitor_I29 - pfam08246
Inhibitor_I29 - smart00848
Peptidase_C1 - pfam00112
Peptidase_C1A_Cathep - cd02698
Pept_C1 - smart00645
Peptidase_C1A_Cathep - cd02621
Peptidase_C1A_Cathep - cd02620
Peptidase_C1A - cd02248
Peptidase_C1 - cd02619


Swiss-Prot Protein: P43235
Identical to: NP_000387
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_C1A_Cathepcd026981.4e-18115324
Peptidase_C1A_Cathepcd026215.6e-17115328
Peptidase_C1Acd022483.6e-130116327
Peptidase_C1A_Cathepcd026201.2e-16116327
Peptidase_C1cd026194.3e-41118326
COG4870COG48705.9e-061325
Peptidase_C1pfam001127.1e-129115328
Inhibitor_I29pfam082462e-202686
Inhibitor_I29smart008484.9e-242685
Pept_C1smart006458e-119115327

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015739Diseasep.ALA277VALPycnodysostosis (PKND)
Swiss-ProtVAR_006725Diseasep.GLY146ARGPycnodysostosis (PKND)
Swiss-ProtVAR_015738Diseasep.GLY79GLUPycnodysostosis (PKND)
Swiss-ProtVAR_006726Diseasep.LEU309PROPycnodysostosis (PKND)
OMIM601105.0004 Diseasep.ALA277VALPYCNODYSOSTOSIS
OMIM601105.0003 Diseasep.ARG241TERPYCNODYSOSTOSIS
OMIM601105.0002 Diseasep.GLY146ARGPYCNODYSOSTOSIS
OMIM601105.0005 Diseasep.GLY79GLUPYCNODYSOSTOSIS
OMIM601105.0007 Diseasep.LEU309PROPYCNODYSOSTOSIS
OMIM601105.0006 Diseasep.LYS52TERPYCNODYSOSTOSIS
OMIM601105.0001 Diseasep.TER330TRPPYCNODYSOSTOSIS



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