Known Diseases associated with this Protein: |  AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
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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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| dbSNP | rs34626614 | Polymorphism | p.GLY159ASP | N/A | | Swiss-Prot | VAR_028365 | Polymorphism | p.HIS197GLN | N/A | | dbSNP | rs1654551 | Polymorphism | p.SER22ALA | N/A | | OMIM | 603767.0001 | Disease | p.TRP153TER | AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE |
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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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
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