Known Diseases associated with this Protein: |  LATHOSTEROLOSIS (LATHST)
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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_014423 | Disease | p.ARG29GLN | Lathosterolosis (LATHST) | | Swiss-Prot | VAR_014424 | Disease | p.GLY211ASP | Lathosterolosis (LATHST) | | Swiss-Prot | VAR_020829 | Disease | p.TYR46SER | Lathosterolosis (LATHST) |
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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124053650
SC5D_HUMAN RecName: Full=Lathosterol oxidase; AltName: Full=C-5 sterol desaturase; AltName: Full=Delta(7)-sterol 5-desaturase; AltName: Full=Lathosterol 5-desaturase; AltName: Full=Sterol-C5-desaturase
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