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Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
| SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (SPG53)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_032287 | Polymorphism | p.ILE206PHE | N/A | | dbSNP | rs17687375 | Polymorphism | p.ILE213VAL | N/A | | Swiss-Prot | VAR_068424 | Disease | p.LYS382ASN | Spastic paraplegia 53, autosomal recessive (SPG53) | | OMIM | 609927.0001 | Disease | p.LYS382ASN | SPASTIC PARAPLEGIA 53, 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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74715446
VP37A_HUMAN RecName: Full=Vacuolar protein sorting-associated protein 37A; Short=hVps37A; AltName: Full=ESCRT-I complex subunit VPS37A; AltName: Full=Hepatocellular carcinoma-related protein 1
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