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Known Diseases associated with this Protein: |  ACID-LABILE SUBUNIT DEFICIENCY
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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 | rs9282731 | Polymorphism | p.ARG548TRP | N/A | | dbSNP | rs35947557 | Polymorphism | p.LEU97PHE | N/A | | dbSNP | rs35706152 | Polymorphism | p.PRO287LEU | N/A | | Swiss-Prot | VAR_050659 | Polymorphism | p.PRO307LEU | N/A | | Swiss-Prot | VAR_022034 | Polymorphism | p.PRO498SER | N/A | | OMIM | 601489.0002 | Disease | p.CYS502ARG | ACID-LABILE SUBUNIT DEFICIENCY |
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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543800
ALS_HUMAN RecName: Full=Insulin-like growth factor-binding protein complex acid labile subunit; Short=ALS; Flags: Precursor
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