Known Diseases associated with this Protein: |  CARBOXYPEPTIDASE N DEFICIENCY
| CARBOXYPEPTIDASE N DEFICIENCY (CPND)
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_042415 | Disease | p.GLY178ASP | Carboxypeptidase N deficiency (CPND) | | dbSNP | rs61751507 | Polymorphism | p.GLY178VAL | N/A | | OMIM | 603103.0002 | Disease | p.GLY178ASP | CARBOXYPEPTIDASE N DEFICIENCY |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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115896
CBPN_HUMAN RecName: Full=Carboxypeptidase N catalytic chain; Short=CPN; AltName: Full=Anaphylatoxin inactivator; AltName: Full=Arginine carboxypeptidase; AltName: Full=Carboxypeptidase N polypeptide 1; AltName: Full=Carboxypeptidase N small subunit; AltName: Full=Kininase-1; AltName: Full=Lysine carboxypeptidase; AltName: Full=Plasma carboxypeptidase B; AltName: Full=Serum carboxypeptidase N; Short=SCPN; Flags: Precursor
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