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Known Diseases associated with this Protein: |  ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
| ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE (PRARSA)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_032862 | Polymorphism | p.ARG66GLY | N/A | | Swiss-Prot | VAR_058094 | Disease | p.ARG134HIS | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA) | | Swiss-Prot | VAR_058095 | Disease | p.ARG187PRO | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA) | | Swiss-Prot | VAR_058096 | Disease | p.ASP209HIS | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA) | | Swiss-Prot | VAR_058093 | Disease | p.GLY130GLU | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA) | | OMIM | 610819.0003 | Disease | p.ARG187PRO | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE | | OMIM | 610819.0001 | Disease | p.ARG117TER | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE | | OMIM | 610819.0005 | Disease | p.LYS264TER | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
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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