|
|
|---|
 |
|
Known Diseases associated with this Protein: |  METHYLMALONIC ACIDURIA TYPE CBLA (MMAA)
| METHYLMALONIC ACIDURIA, CBLA TYPE
|
|  | 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. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_020836 | Disease | p.ARG145GLN | Methylmalonic aciduria type cblA (MMAA) | | Swiss-Prot | VAR_020838 | Disease | p.ARG359GLN | Methylmalonic aciduria type cblA (MMAA) | | Swiss-Prot | VAR_038804 | Disease | p.ARG359GLY | Methylmalonic aciduria type cblA (MMAA) | | dbSNP | rs2270655 | Polymorphism | p.GLN363HIS | N/A | | Swiss-Prot | VAR_020837 | Disease | p.GLY218GLU | Methylmalonic aciduria type cblA (MMAA) | | Swiss-Prot | VAR_020835 | Disease | p.LEU89PRO | Methylmalonic aciduria type cblA (MMAA) | | Swiss-Prot | VAR_017202 | Disease | p.TYR207CYS | Methylmalonic aciduria type cblA (MMAA) | | OMIM | 607481.0005 | Disease | p.ARG145TER | METHYLMALONIC ACIDURIA, cblA TYPE | | OMIM | 607481.0003 | Disease | p.GLN95TER | METHYLMALONIC ACIDURIA, cblA TYPE | | OMIM | 607481.0004 | Disease | p.TYR207CYS | METHYLMALONIC ACIDURIA, cblA 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 |
|
38258173
MMAA_HUMAN RecName: Full=Methylmalonic aciduria type A protein, mitochondrial; Flags: Precursor
9
1
3
1
6
