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Known Diseases associated with this Protein: |  AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE (1 FAMILY)
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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_059392 | Polymorphism | p.ARG189HIS | N/A | | Swiss-Prot | VAR_049878 | Polymorphism | p.PRO120LEU | N/A | | dbSNP | rs1064422 | Polymorphism | p.PRO142LEU | N/A | | dbSNP | rs73157031 | Polymorphism | p.THR148ILE | N/A | | dbSNP | rs116041505 | Polymorphism | p.THR95LYS | N/A | | OMIM | 146770.0001 | Disease | p.GLN22TER | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE (1 family) | | OMIM | 146770.0002 | Disease | p.PRO142LEU | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE (1 family) |
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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123944
IGLL1_HUMAN RecName: Full=Immunoglobulin lambda-like polypeptide 1; AltName: Full=CD179 antigen-like family member B; AltName: Full=Ig lambda-5; AltName: Full=Immunoglobulin omega polypeptide; AltName: Full=Immunoglobulin-related protein 14.1; AltName: CD_antigen=CD179b; Flags: Precursor
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