Known Diseases associated with this Protein: |  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (1 FAMILY)
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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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| dbSNP | rs11546406 | Polymorphism | p.THR138ILE | N/A | | OMIM | 611849.0001 | Disease | p.LEU156ARG | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (1 family) |
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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51316917
RM44_HUMAN RecName: Full=39S ribosomal protein L44, mitochondrial; Short=L44mt; Short=MRP-L44; Flags: Precursor
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