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Known Diseases associated with this Protein: |  NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, 1A (HSAN1A)
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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_068476 | Polymorphism | p.ALA310GLY | N/A | | Swiss-Prot | VAR_066246 | Disease | p.ALA352VAL | Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) | | Swiss-Prot | VAR_037889 | Polymorphism | p.ARG151LEU | N/A | | Swiss-Prot | VAR_036610 | Polymorphism | p.ARG239TRP | N/A | | Swiss-Prot | VAR_011392 | Disease | p.CYS133TRP | Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) | | Swiss-Prot | VAR_011393 | Disease | p.CYS133TYR | Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) | | Swiss-Prot | VAR_037890 | Polymorphism | p.GLY387ALA | N/A | | Swiss-Prot | VAR_066245 | Disease | p.SER331PHE | Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) | | Swiss-Prot | VAR_011394 | Disease | p.VAL144ASP | Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) |
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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6685579
SPTC1_HUMAN RecName: Full=Serine palmitoyltransferase 1; AltName: Full=Long chain base biosynthesis protein 1; Short=LCB 1; AltName: Full=Serine-palmitoyl-CoA transferase 1; Short=SPT 1; Short=SPT1
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