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Known Diseases associated with this Protein: | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
| NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (NPHLOP2)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_048021 | Disease | p.ARG153GLN | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) | Swiss-Prot | VAR_067661 | Disease | p.GLU68ALA | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) | Swiss-Prot | VAR_048022 | Disease | p.GLU225LYS | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) | Swiss-Prot | VAR_034899 | Disease | p.LEU110VAL | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) | OMIM | 604990.0002 | Disease | p.ARG153GLN | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 | OMIM | 604990.0003 | Disease | p.GLU225LYS | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 | OMIM | 604990.0001 | Disease | p.LEU110VAL | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 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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