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Known Diseases associated with this Protein: |  FAMILIAL PROGRESSIVE HYPERPIGMENTATION (FPH)
| HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2
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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 | 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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| Swiss-Prot | VAR_063237 | Disease | p.ASN36SER | Familial progressive hyperpigmentation (FPH) | | dbSNP | rs41283112 | Polymorphism | p.ASP210TYR | N/A | | Swiss-Prot | VAR_042653 | Polymorphism | p.PHE232TYR | N/A | | Swiss-Prot | VAR_042652 | Polymorphism | p.THR54ALA | N/A | | OMIM | 184745.0003 | Disease | p.ASN36SER | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 |
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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134289
SCF_HUMAN RecName: Full=Kit ligand; AltName: Full=Mast cell growth factor; Short=MGF; AltName: Full=Stem cell factor; Short=SCF; AltName: Full=c-Kit ligand; Contains: RecName: Full=Soluble KIT ligand; Short=sKITLG; Flags: Precursor
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