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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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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_025001 | Disease | p.ALA133PRO | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_025000 | Disease | p.TYR113CYS | Bernard-Soulier syndrome (BSS) | | OMIM | 138720.0002 | Disease | p.ALA108PRO | MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE | | OMIM | 138720.0003 | Disease | p.TRP21TER | BERNARD SOULIER SYNDROME, TYPE B | | OMIM | 138720.0001 | Disease | p.TYR88CYS | MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE |
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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121532
GP1BB_HUMAN RecName: Full=Platelet glycoprotein Ib beta chain; Short=GP-Ib beta; Short=GPIb-beta; Short=GPIbB; AltName: Full=Antigen CD42b-beta; AltName: CD_antigen=CD42c; Flags: Precursor
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