Known Diseases associated with this Protein: |  BEAULIEU-BOYCOTT-INNES SYNDROME
| BEAULIEU-BOYCOTT-INNES SYNDROME (BBIS)
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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_069779 | Disease | p.GLY46ARG | Beaulieu-Boycott-Innes syndrome (BBIS) | | OMIM | 615403.0001 | Disease | p.GLY46ARG | BEAULIEU-BOYCOTT-INNES SYNDROME |
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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74759455
THOC6_HUMAN RecName: Full=THO complex subunit 6 homolog; AltName: Full=Functional spliceosome-associated protein 35; Short=fSAP35; AltName: Full=WD repeat-containing protein 58
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