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Known Diseases associated with this Protein: |  LEIGH SYNDROME FRENCH-CANADIAN TYPE (LSFC)
| LEIGH SYNDROME, FRENCH-CANADIAN 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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| PPR | pfam01535 | 0.00049 | 233 | 263 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs114205971 | Polymorphism | p.ALA14GLY | N/A | | Swiss-Prot | VAR_018656 | Disease | p.ALA354VAL | Leigh syndrome French-Canadian type (LSFC) | | dbSNP | rs61730682 | Polymorphism | p.LEU899PRO | N/A | | Swiss-Prot | VAR_052935 | Polymorphism | p.THR478ALA | N/A | | dbSNP | rs35035668 | Polymorphism | p.THR478SER | N/A | | OMIM | 607544.0001 | Disease | p.ALA354VAL | LEIGH SYNDROME, FRENCH-CANADIAN 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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156632706
LPPRC_HUMAN RecName: Full=Leucine-rich PPR motif-containing protein, mitochondrial; AltName: Full=130 kDa leucine-rich protein; Short=LRP 130; AltName: Full=GP130; Flags: Precursor
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