Known Diseases associated with this Protein: |  AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs2302234 | Polymorphism | p.ASN332LYS | N/A | | dbSNP | rs2907373 | Polymorphism | p.LEU530SER | N/A | | OMIM | 611062.0006 | Disease | p.ARG276TER | AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME |
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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269849750
FA20A_HUMAN RecName: Full=Protein FAM20A; Flags: Precursor
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