Mutations on the Protein: P10253 From Positions: 238 To 286
Swiss-Prot Disease: VAR_029028 

p.GLU262LYS

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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Swiss-Prot Disease: VAR_018080 

p.PRO285ARG

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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Swiss-Prot Disease: VAR_068580 

p.PRO266SER

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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Swiss-Prot Disease: VAR_068582 

p.PRO285SER

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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Swiss-Prot Disease: VAR_068578 

p.SER251LEU

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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Swiss-Prot Disease: VAR_068579 

p.SER254LEU

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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Swiss-Prot Polymorphism: VAR_068581 
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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