Mutations on the Protein: P56539 From Positions: 53 To 60
dbSNP Polymorphism: rs72546667 
Swiss-Prot Disease: VAR_029541 
p.SER53GLY
N/A
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N/A
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Rippling muscle disease (RMD)
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Swiss-Prot Disease: VAR_010742 
p.VAL57MET
N/A
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N/A
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HyperCKmia (HYPCK)
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OMIM Disease: 601253.0003 
p.GLY56SER
N/A
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N/A
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE
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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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