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Known Diseases associated with this Protein: |  CEROID LIPOFUSCINOSIS, NEURONAL, 12 (1 FAMILY)
| KUFOR-RAKEB SYNDROME
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs3170740 | Polymorphism | p.ALA1072THR | N/A | | dbSNP | rs15786 | Polymorphism | p.PRO1122LEU | N/A | | OMIM | 610513.0004 | Disease | p.GLY499ARG | KUFOR-RAKEB SYNDROME | | OMIM | 610513.0008 | Disease | p.GLY833ARG | KUFOR-RAKEB SYNDROME | | OMIM | 610513.0007 | Disease | p.MET1ARG | CEROID LIPOFUSCINOSIS, NEURONAL, 12 (1 family) |
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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213972621
probable cation-transporting ATPase 13A2 isoform 3 [Homo sapiens]
3
2
3
2
0
