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Known Diseases associated with this Protein: |  HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_049071 | Polymorphism | p.ASN418TYR | N/A | | Swiss-Prot | VAR_067283 | Polymorphism | p.LEU127PHE | N/A | | dbSNP | rs77871363 | Polymorphism | p.MET259THR | N/A | | OMIM | 604774.0002 | Disease | p.GLU129TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 | | OMIM | 604774.0007 | Disease | p.PHE295LEU | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 | | OMIM | 604774.0001 | Disease | p.SER17TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 |
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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25008126
ANGL3_HUMAN RecName: Full=Angiopoietin-related protein 3; AltName: Full=Angiopoietin-5; Short=ANG-5; AltName: Full=Angiopoietin-like protein 3; Flags: Precursor
3
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1
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