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Known Diseases associated with this Protein: | HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HHRH)
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Default View:
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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_025714 | Disease | p.ALA413GLU | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) | Swiss-Prot | VAR_025706 | Polymorphism | p.ARG67HIS | N/A | Swiss-Prot | VAR_025713 | Disease | p.ARG353LEU | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) | Swiss-Prot | VAR_025715 | Disease | p.ARG468TRP | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) | Swiss-Prot | VAR_025711 | Polymorphism | p.ASP237ASN | N/A | Swiss-Prot | VAR_025716 | Polymorphism | p.GLU513VAL | N/A | Swiss-Prot | VAR_025708 | Polymorphism | p.GLY180ALA | N/A | Swiss-Prot | VAR_025710 | Disease | p.GLY196ARG | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) | Swiss-Prot | VAR_025712 | Polymorphism | p.GLY337SER | N/A | Swiss-Prot | VAR_025709 | Disease | p.SER192LEU | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) | Swiss-Prot | VAR_025707 | Disease | p.SER138PHE | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) |
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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