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Known Diseases associated with this Protein: |  SHWACHMAN-DIAMOND SYNDROME
| SHWACHMAN-DIAMOND SYNDROME (SDS)
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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_015395 | Disease | p.ARG169CYS | Shwachman-Diamond syndrome (SDS) | | Swiss-Prot | VAR_015394 | Disease | p.ARG126THR | Shwachman-Diamond syndrome (SDS) | | Swiss-Prot | VAR_015390 | Disease | p.ASN8LYS | Shwachman-Diamond syndrome (SDS) | | Swiss-Prot | VAR_015391 | Disease | p.GLU44GLY | Shwachman-Diamond syndrome (SDS) | | Swiss-Prot | VAR_015393 | Disease | p.ILE87SER | Shwachman-Diamond syndrome (SDS) | | Swiss-Prot | VAR_015396 | Disease | p.ILE212THR | Shwachman-Diamond syndrome (SDS) | | Swiss-Prot | VAR_015392 | Disease | p.LYS67GLU | Shwachman-Diamond syndrome (SDS) | | OMIM | 607444.0003 | Disease | p.ASN8LYS | SHWACHMAN-DIAMOND SYNDROME | | OMIM | 607444.0001 | Disease | p.LYS62TER | SHWACHMAN-DIAMOND SYNDROME |
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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28380824
SBDS_HUMAN RecName: Full=Ribosome maturation protein SBDS; AltName: Full=Shwachman-Bodian-Diamond syndrome protein
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