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Known Diseases associated with this Protein: | PROLIDASE DEFICIENCY
| PROLIDASE DEFICIENCY (PD)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_011614 | Disease | p.ARG184GLN | Prolidase deficiency (PD) | dbSNP | rs76199755 rs2230062 | Polymorphism | p.ARG388HIS | N/A | Swiss-Prot | VAR_004404 | Disease | p.ASP276ASN | Prolidase deficiency (PD) | dbSNP | rs61748998 | Polymorphism | p.GLU170VAL | N/A | Swiss-Prot | VAR_004405 | Disease | p.GLY448ARG | Prolidase deficiency (PD) | Swiss-Prot | VAR_011615 | Disease | p.GLY278ASP | Prolidase deficiency (PD) | dbSNP | rs17570 | Polymorphism | p.LEU435PHE | N/A | dbSNP | rs61734506 | Polymorphism | p.SER167ASN | N/A | OMIM | 613230.0003 | Disease | p.ARG184GLN | PROLIDASE DEFICIENCY | OMIM | 613230.0008 | Disease | p.ARG265TER | PROLIDASE DEFICIENCY | OMIM | 613230.0001 | Disease | p.ASP276ASN | PROLIDASE DEFICIENCY | OMIM | 613230.0009 | Disease | p.GLU412LYS | PROLIDASE DEFICIENCY | OMIM | 613230.0005 | Disease | p.GLY448ARG | PROLIDASE DEFICIENCY | OMIM | 613230.0004 | Disease | p.GLY278ASP | PROLIDASE DEFICIENCY | OMIM | 613230.0011 | Disease | p.SER202PHE | PROLIDASE DEFICIENCY |
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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