Mutations on the Protein: Q8TD16 From Positions: 742 To 783
Swiss-Prot Disease: VAR_070118 
p.GLU774GLY
N/A
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N/A
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Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)
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OMIM Disease: 609797.0004 
p.GLU774GLY
N/A
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N/A
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SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT
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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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