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Known Diseases associated with this Protein: |  PROPIONIC ACIDEMIA
| PROPIONIC ACIDEMIA TYPE I (PA-1)
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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_009087 | Disease | p.ALA75PRO | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009089 | Disease | p.ALA138THR | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009096 | Disease | p.ARG399GLN | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009088 | Disease | p.ARG77TRP | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009093 | Disease | p.ASP368GLY | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_023844 | Disease | p.CYS398ARG | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009092 | Disease | p.GLN297ARG | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009100 | Disease | p.GLY631ARG | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009101 | Disease | p.GLY668ARG | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_023843 | Disease | p.GLY197GLU | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009095 | Disease | p.GLY379VAL | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009090 | Disease | p.ILE164THR | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009098 | Polymorphism | p.ILE475VAL | N/A | | Swiss-Prot | VAR_009091 | Disease | p.MET229LYS | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009094 | Disease | p.MET373LYS | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_009097 | Disease | p.PRO423LEU | Propionic acidemia type I (PA-1) | | dbSNP | rs16957356 | Polymorphism | p.SER582LEU | N/A | | Swiss-Prot | VAR_009099 | Disease | p.TRP559LEU | Propionic acidemia type I (PA-1) | | Swiss-Prot | VAR_023846 | Polymorphism | p.VAL551PHE | N/A | | OMIM | 232000.0004 | Disease | p.ARG288TER | PROPIONIC ACIDEMIA | | OMIM | 232000.0005 | Disease | p.MET348LYS | PROPIONIC ACIDEMIA |
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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308153661
PCCA_HUMAN RecName: Full=Propionyl-CoA carboxylase alpha chain, mitochondrial; Short=PCCase subunit alpha; AltName: Full=Propanoyl-CoA:carbon dioxide ligase subunit alpha; Flags: Precursor
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