Mutations on the Protein: P10253 From Positions: 904 To 952
Swiss-Prot Disease: VAR_068635 

p.LEU935PRO

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_070020 

p.PRO913ARG

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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dbSNP Polymorphism: rs1800315 
Swiss-Prot Disease: VAR_004318 

p.VAL949ASP

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_068634 

p.VAL916PHE

N/A
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N/A
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Glycogen storage disease 2 (GSD2)
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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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