Mutations on the Protein: Q16585 From Positions: 95 To 111
Swiss-Prot Disease: VAR_010394 

p.LEU108ARG

N/A
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N/A
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Limb-girdle muscular dystrophy 2E (LGMD2E)
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Swiss-Prot Disease: VAR_010393 

p.MET100LYS

N/A
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N/A
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Limb-girdle muscular dystrophy 2E (LGMD2E)
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OMIM Disease: 600900.0006 

p.LEU108ARG

N/A
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N/A
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
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OMIM Disease: 600900.0007 

p.MET100LYS

N/A
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N/A
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
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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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