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Known Diseases associated with this Protein: |  ASPLENIA, ISOLATED CONGENITAL
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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_025522 | Polymorphism | p.ARG117TRP | N/A | | OMIM | 150370.0005 | Disease | p.ARG186CYS | ASPLENIA, ISOLATED CONGENITAL | | OMIM | 150370.0003 | Disease | p.ARG180GLY | ASPLENIA, ISOLATED CONGENITAL | | OMIM | 150370.0004 | Disease | p.ARG180TRP | ASPLENIA, ISOLATED CONGENITAL | | OMIM | 150370.0001 | Disease | p.GLN9TER | ASPLENIA, ISOLATED CONGENITAL | | OMIM | 150370.0007 | Disease | p.LEU58PHE | ASPLENIA, ISOLATED CONGENITAL | | OMIM | 150370.0006 | Disease | p.THR54ASN | ASPLENIA, ISOLATED CONGENITAL |
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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125969
RSSA_HUMAN RecName: Full=40S ribosomal protein SA; AltName: Full=37 kDa laminin receptor precursor; Short=37LRP; AltName: Full=37/67 kDa laminin receptor; Short=LRP/LR; AltName: Full=67 kDa laminin receptor; Short=67LR; AltName: Full=Colon carcinoma laminin-binding protein; AltName: Full=Laminin receptor 1; Short=LamR; AltName: Full=Laminin-binding protein precursor p40; Short=LBP/p40; AltName: Full=Multidrug resistance-associated protein MGr1-Ag; AltName: Full=NEM/1CHD4
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