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Known Diseases associated with this Protein: | GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
| GASTROINTESTINAL STROMAL TUMOR, SOMATIC
| GERM CELL TUMOR, SOMATIC
| LEUKEMIA, ACUTE MYELOID
| MAST CELL DISEASE, SYSTEMIC
| MAST CELL LEUKEMIA
| MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED;;
| MASTOCYTOSIS, ADULT SPORADIC, INCLUDE
| MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET
| PIEBALDISM
| PIEBALDISM WITH SENSORINEURAL DEAFNESS
| PIEBALDISM, PROGRESSIVE
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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Default View:
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs3822214 | Polymorphism | p.MET537LEU | N/A | OMIM | 164920.0016 | Disease | p.ARG792GLY | PIEBALDISM WITH SENSORINEURAL DEAFNESS | OMIM | 164920.0010 | Disease | p.ASP816GLY | MAST CELL DISEASE, SYSTEMIC | OMIM | 164920.0021 | Disease | p.ASP812HIS | GERM CELL TUMOR, SOMATIC | OMIM | 164920.0018 | Disease | p.ASP812TYR | LEUKEMIA, ACUTE MYELOID | OMIM | 164920.0009 | Disease | p.ASP812VAL | MAST CELL LEUKEMIA||MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED;;||MASTOCYTOSIS, ADULT SPORADIC, INCLUDE | OMIM | 164920.0006 | Disease | p.GLU579LYS | PIEBALDISM | OMIM | 164920.0020 | Disease | p.GLU835LYS | MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET | OMIM | 164920.0001 | Disease | p.GLY660ARG | PIEBALDISM | OMIM | 164920.0024 | Disease | p.LYS638GLU | GASTROINTESTINAL STROMAL TUMOR, FAMILIAL | OMIM | 164920.0022 | Disease | p.PHE580CYS | PIEBALDISM | OMIM | 164920.0003 | Disease | p.PHE580LEU | PIEBALDISM | OMIM | 164920.0019 | Disease | p.THR843PRO | PIEBALDISM | OMIM | 164920.0023 | Disease | p.VAL555ALA | GASTROINTESTINAL STROMAL TUMOR, FAMILIAL | OMIM | 164920.0025 | Disease | p.VAL616ALA | PIEBALDISM, PROGRESSIVE | OMIM | 164920.0014 | Disease | p.VAL555ASP | GASTROINTESTINAL STROMAL TUMOR, SOMATIC |
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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