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Known Diseases associated with this Protein: |  METHYLMALONIC ACIDURIA TYPE CBLB (MMAB)
| METHYLMALONIC ACIDURIA, CBLB TYPE
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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_017204 | Disease | p.ALA135THR | Methylmalonic aciduria type cblB (MMAB) | | Swiss-Prot | VAR_017203 | Polymorphism | p.ARG19GLN | N/A | | dbSNP | rs10774775 | Polymorphism | p.ARG19HIS | N/A | | Swiss-Prot | VAR_017205 | Polymorphism | p.ARG186TRP | N/A | | Swiss-Prot | VAR_017206 | Disease | p.ARG191TRP | Methylmalonic aciduria type cblB (MMAB) | | Swiss-Prot | VAR_017207 | Disease | p.GLU193LYS | Methylmalonic aciduria type cblB (MMAB) | | Swiss-Prot | VAR_023471 | Disease | p.ILE96THR | Methylmalonic aciduria type cblB (MMAB) | | dbSNP | rs9593 | Polymorphism | p.MET239LYS | N/A | | OMIM | 607568.0001 | Disease | p.ARG186TRP | METHYLMALONIC ACIDURIA, cblB TYPE |
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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38258221
MMAB_HUMAN RecName: Full=Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; AltName: Full=Cob(I)alamin adenosyltransferase; AltName: Full=Methylmalonic aciduria type B protein; Flags: Precursor
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