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Known Diseases associated with this Protein: | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_065073 | Polymorphism | p.ASN570SER | N/A | Swiss-Prot | VAR_065074 | Polymorphism | p.ASN597THR | N/A | Swiss-Prot | VAR_065068 | Polymorphism | p.MET101VAL | N/A | Swiss-Prot | VAR_065069 | Polymorphism | p.PRO215ALA | N/A | Swiss-Prot | VAR_065070 | Polymorphism | p.SER261PRO | N/A | Swiss-Prot | VAR_065067 | Polymorphism | p.SER5PRO | N/A | Swiss-Prot | VAR_065075 | Polymorphism | p.THR613ASN | N/A | Swiss-Prot | VAR_065071 | Polymorphism | p.THR390SER | N/A | Swiss-Prot | VAR_065072 | Polymorphism | p.VAL445MET | N/A | OMIM | 605515.0002 | Disease | p.ARG1TER | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
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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