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Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
| SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (SPG46)
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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_069635 | Disease | p.ARG873HIS | Spastic paraplegia 46, autosomal recessive (SPG46) | | Swiss-Prot | VAR_069634 | Disease | p.ARG630TRP | Spastic paraplegia 46, autosomal recessive (SPG46) | | dbSNP | rs79325774 | Polymorphism | p.GLY423SER | N/A | | OMIM | 609471.0006 | Disease | p.ARG873HIS | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | | OMIM | 609471.0002 | Disease | p.ARG234TER | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | | OMIM | 609471.0005 | Disease | p.ARG340TER | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | | OMIM | 609471.0001 | Disease | p.ARG630TRP | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | | OMIM | 609471.0008 | Disease | p.ASP594HIS | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | | OMIM | 609471.0003 | Disease | p.TRP173TER | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | | OMIM | 609471.0007 | Disease | p.TYR1TER | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE |
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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143018392
GBA2_HUMAN RecName: Full=Non-lysosomal glucosylceramidase; Short=NLGase; AltName: Full=Beta-glucocerebrosidase 2; Short=Beta-glucosidase 2; AltName: Full=Glucosylceramidase 2
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