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Known Diseases associated with this Protein: |  CONGENITAL LACTASE DEFICIENCY (COLACD)
| LACTASE DEFICIENCY, 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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs114525655 | Polymorphism | p.ALA152THR | N/A | | dbSNP | rs2322659 | Polymorphism | p.ASN1639SER | N/A | | Swiss-Prot | VAR_026706 | Disease | p.GLN268HIS | Congenital lactase deficiency (COLACD) | | Swiss-Prot | VAR_026708 | Disease | p.GLY1363SER | Congenital lactase deficiency (COLACD) | | dbSNP | rs4954449 | Polymorphism | p.ILE362VAL | N/A | | Swiss-Prot | VAR_055882 | Polymorphism | p.SER190LEU | N/A | | dbSNP | rs3754689 | Polymorphism | p.VAL219ILE | N/A | | Swiss-Prot | VAR_055883 | Polymorphism | p.VAL1593MET | N/A | | OMIM | 603202.0003 | Disease | p.GLN268HIS | LACTASE DEFICIENCY, CONGENITAL | | OMIM | 603202.0001 | Disease | p.TYR1390TER | LACTASE DEFICIENCY, 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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311033425
LPH_HUMAN RecName: Full=Lactase-phlorizin hydrolase; AltName: Full=Lactase-glycosylceramidase; Includes: RecName: Full=Lactase; Includes: RecName: Full=Phlorizin hydrolase; Flags: Precursor
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