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Known Diseases associated with this Protein: |  OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
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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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| dbSNP | rs34677493 | Polymorphism | p.PHE159LEU | N/A | | Swiss-Prot | VAR_053871 | Polymorphism | p.ALA278SER | N/A | | Swiss-Prot | VAR_031304 | Polymorphism | p.LYS292ASN | N/A | | Swiss-Prot | VAR_053870 | Polymorphism | p.PHE159LEU | N/A | | OMIM | 300647.0004 | Disease | p.ARG353TER | OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS | | OMIM | 300647.0005 | Disease | p.ARG358TER | OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS | | OMIM | 300647.0006 | Disease | p.CYS143TER | OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS | | OMIM | 300647.0008 | Disease | p.GLN271TER | OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS |
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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142984753
AMER1_HUMAN RecName: Full=APC membrane recruitment protein 1; Short=Amer1; AltName: Full=Protein FAM123B; AltName: Full=Wilms tumor gene on the X chromosome protein
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