Mutations on the Protein: P12109 From Positions: 103 To 154
Swiss-Prot Disease: VAR_013580 

p.LYS121ARG

N/A
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N/A
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Bethlem myopathy (BM)
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dbSNP Polymorphism: rs11553519 
Swiss-Prot Disease: VAR_058213 

p.SER116ASN

N/A
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N/A
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Bethlem myopathy (BM)
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OMIM Disease: 120220.0005 

p.LYS121ARG

N/A
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N/A
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BETHLEM MYOPATHY
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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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