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Results for the Protein: Q9Y5K2
317373372

KLK4_HUMAN RecName: Full=Kallikrein-4; AltName: Full=Enamel matrix serine proteinase 1; AltName: Full=Kallikrein-like protein 1; Short=KLK-L1; AltName: Full=Prostase; AltName: Full=Serine protease 17; Flags: Precursor

Known Diseases associated with this Protein:
  AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
1
3
1
2
1
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Default View:

Tryp_SPc - smart00020
Trypsin - pfam00089
Tryp_SPc - cd00190


Swiss-Prot Protein: Q9Y5K2
Identical to: NP_004908
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tryp_SPccd001906.2e-9831250
Trypsinpfam000893.6e-7131247
Tryp_SPcsmart000202.4e-9130247

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34626614 Polymorphismp.GLY159ASPN/A
Swiss-ProtVAR_028365Polymorphismp.HIS197GLNN/A
dbSNPrs1654551 Polymorphismp.SER22ALAN/A
OMIM603767.0001 Diseasep.TRP153TERAMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE



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