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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (MRT15)
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066592 | Disease | p.ARG334CYS | Mental retardation, autosomal recessive 15 (MRT15) | | dbSNP | rs968733 | Polymorphism | p.ASN59SER | N/A | | Swiss-Prot | VAR_066593 | Disease | p.GLU397LYS | Mental retardation, autosomal recessive 15 (MRT15) | | OMIM | 604346.0003 | Disease | p.ARG334CYS | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | | OMIM | 604346.0001 | Disease | p.GLU397LYS | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | | OMIM | 604346.0002 | Disease | p.TRP473TER | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 |
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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93195043
MA1B1_HUMAN RecName: Full=Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; AltName: Full=ER alpha-1,2-mannosidase; AltName: Full=ER mannosidase 1; Short=ERMan1; AltName: Full=Man9GlcNAc2-specific-processing alpha-mannosidase; AltName: Full=Mannosidase alpha class 1B member 1
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