Known Diseases associated with this Protein: |  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OPTB2)
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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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| Swiss-Prot | VAR_037424 | Disease | p.MET199LYS | Osteopetrosis, autosomal recessive 2 (OPTB2) | | OMIM | 602642.0002 | Disease | p.MET199LYS | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 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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12643360
TNF11_HUMAN RecName: Full=Tumor necrosis factor ligand superfamily member 11; AltName: Full=Osteoclast differentiation factor; Short=ODF; AltName: Full=Osteoprotegerin ligand; Short=OPGL; AltName: Full=Receptor activator of nuclear factor kappa-B ligand; Short=RANKL; AltName: Full=TNF-related activation-induced cytokine; Short=TRANCE; AltName: CD_antigen=CD254; Contains: RecName: Full=Tumor necrosis factor ligand superfamily member 11, membrane form; Contains: RecName: Full=Tumor necrosis factor ligand superfamily member 11, soluble form
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