Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (MRT14)
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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_065918 | Disease | p.PRO182LEU | Mental retardation, autosomal recessive 14 (MRT14) | | OMIM | 610057.0001 | Disease | p.PRO182LEU | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 |
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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20177939
TECR_HUMAN RecName: Full=Very-long-chain enoyl-CoA reductase; AltName: Full=Synaptic glycoprotein SC2; AltName: Full=Trans-2,3-enoyl-CoA reductase; Short=TER
2
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1
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1
