Known Diseases associated with this Protein: |  CEROID LIPOFUSCINOSIS, NEURONAL, 12 (1 FAMILY)
| KUFOR-RAKEB SYNDROME
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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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| OMIM | 610513.0004 | Disease | p.GLY499ARG | KUFOR-RAKEB SYNDROME | | OMIM | 610513.0008 | Disease | p.GLY872ARG | KUFOR-RAKEB SYNDROME | | OMIM | 610513.0007 | Disease | p.MET805ARG | 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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213972619
probable cation-transporting ATPase 13A2 isoform 2 [Homo sapiens]
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