Mutations on the Protein: P68133 From Positions: 283 To 302
Swiss-Prot Disease: VAR_015586 

p.ASP288GLY

N/A
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N/A
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Nemaline myopathy 3 (NEM3)
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Swiss-Prot Disease: VAR_032918 

p.ASP294VAL

N/A
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N/A
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Myopathy, congenital, with fiber-type disproportion (CFTD)
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Swiss-Prot Disease: VAR_062472 

p.MET285LYS

N/A
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N/A
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Nemaline myopathy 3 (NEM3)
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OMIM Disease: 102610.0011 

p.ASP292VAL

N/A
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N/A
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MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
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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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