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Known Diseases associated with this Protein: |  BLEEDING DISORDER, PLATELET-TYPE 8 (BDPLT8)
| BLEEDING DISORDER, PLATELET-TYPE, 8
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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_025383 | Disease | p.ARG256GLN | Bleeding disorder, platelet-type 8 (BDPLT8) | | Swiss-Prot | VAR_025384 | Disease | p.ARG265TRP | Bleeding disorder, platelet-type 8 (BDPLT8) | | dbSNP | rs16846673 | Polymorphism | p.GLU330GLY | N/A | | OMIM | 600515.0002 | Disease | p.ARG256GLN | BLEEDING DISORDER, PLATELET-TYPE, 8 | | OMIM | 600515.0003 | Disease | p.ARG265TRP | BLEEDING DISORDER, PLATELET-TYPE, 8 |
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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21263835
P2Y12_HUMAN RecName: Full=P2Y purinoceptor 12; Short=P2Y12; AltName: Full=ADP-glucose receptor; Short=ADPG-R; AltName: Full=P2T(AC); AltName: Full=P2Y(AC); AltName: Full=P2Y(cyc); AltName: Full=P2Y12 platelet ADP receptor; Short=P2Y(ADP); AltName: Full=SP1999
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