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Known Diseases associated with this Protein: |  BERNARD-SOULIER SYNDROME (BSS)
| BERNARD-SOULIER SYNDROME, TYPE C
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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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| dbSNP | rs3796130 | Disease | p.ALA156THR | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_005264 | Disease | p.ASN61SER | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_005263 | Disease | p.ASP37GLY | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_024997 | Disease | p.CYS24ARG | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_025008 | Disease | p.CYS113TYR | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_024998 | Disease | p.LEU56PRO | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_024996 | Disease | p.LEU7PRO | Bernard-Soulier syndrome (BSS) | | Swiss-Prot | VAR_024999 | Disease | p.PHE71SER | Bernard-Soulier syndrome (BSS) | | OMIM | 173515.0001 | Disease | p.ASN45SER | BERNARD-SOULIER SYNDROME, TYPE C | | OMIM | 173515.0002 | Disease | p.ASP21GLY | BERNARD-SOULIER SYNDROME, TYPE C | | OMIM | 173515.0005 | Disease | p.CYS8ARG | BERNARD-SOULIER SYNDROME, TYPE C | | OMIM | 173515.0004 | Disease | p.LEU40PRO | BERNARD-SOULIER SYNDROME, TYPE C | | OMIM | 173515.0006 | Disease | p.LEU7PRO | BERNARD-SOULIER SYNDROME, TYPE C | | OMIM | 173515.0003 | Disease | p.PHE55SER | BERNARD-SOULIER SYNDROME, TYPE C |
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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2822110
GPIX_HUMAN RecName: Full=Platelet glycoprotein IX; Short=GP-IX; Short=GPIX; AltName: Full=Glycoprotein 9; AltName: CD_antigen=CD42a; Flags: Precursor
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