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Known Diseases associated with this Protein: |  GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
| METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B 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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| OMIM | 176801.0007 | Disease | p.ASN215HIS | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | | OMIM | 176801.0010 | Disease | p.CYS381GLY | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | | OMIM | 176801.0004 | Disease | p.CYS384PHE | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | | OMIM | 176801.0003 | Disease | p.CYS241SER | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | | OMIM | 176801.0011 | Disease | p.GLN429TER | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | | OMIM | 176801.0012 | Disease | p.LEU348PRO | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | | OMIM | 176801.0001 | Disease | p.THR217ILE | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B 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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110224479
proactivator polypeptide isoform c preproprotein [Homo sapiens]
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