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Known Diseases associated with this Protein: |  BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (BPGMD)
| BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ERYTHROCYTOSIS DUE TO
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_065368 | Disease | p.ARG90CYS | Bisphosphoglycerate mutase deficiency (BPGMD) | | Swiss-Prot | VAR_065367 | Disease | p.ARG62GLN | Bisphosphoglycerate mutase deficiency (BPGMD) | | OMIM | 613896.0001 | Disease | p.ARG89CYS | BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ERYTHROCYTOSIS DUE TO |
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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130350
PMGE_HUMAN RecName: Full=Bisphosphoglycerate mutase; Short=BPGM; AltName: Full=2,3-bisphosphoglycerate mutase, erythrocyte; AltName: Full=2,3-bisphosphoglycerate synthase; AltName: Full=2,3-diphosphoglycerate mutase; Short=DPGM; AltName: Full=BPG-dependent PGAM
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