Mutations on the Protein: P56539 From Positions: 23 To 30
Swiss-Prot Disease: VAR_011512 

p.ARG27GLN

N/A
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N/A
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Rippling muscle disease (RMD)
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Swiss-Prot Disease: VAR_015374 

p.ASP28GLU

N/A
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N/A
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Rippling muscle disease (RMD)
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Swiss-Prot Disease: VAR_029540 

p.PRO29LEU

N/A
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N/A
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HyperCKmia (HYPCK)
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OMIM Disease: 601253.0007 

p.ARG27GLN

N/A
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N/A
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RIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED;;||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C,
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OMIM Disease: 601253.0008 

p.ASP28GLU

N/A
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N/A
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RIPPLING MUSCLE DISEASE 2||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED
|
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OMIM Disease: 601253.0012 

p.PRO29LEU

N/A
| |

N/A
|
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CREATINE PHOSPHOKINASE, ELEVATED SERUM
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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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