Mutations on the Protein: O15305 From Positions: 209 To 221
Swiss-Prot Disease: VAR_006110 

p.ASN216ILE

N/A
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N/A
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Congenital disorder of glycosylation 1A (CDG1A)
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Swiss-Prot Disease: VAR_022501 

p.ASN216SER

N/A
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N/A
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Congenital disorder of glycosylation 1A (CDG1A)
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Swiss-Prot Disease: VAR_022502 

p.ASP217GLU

N/A
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N/A
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Congenital disorder of glycosylation 1A (CDG1A)
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Swiss-Prot Disease: VAR_022500 

p.GLY214SER

N/A
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N/A
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Congenital disorder of glycosylation 1A (CDG1A)
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Swiss-Prot Disease: VAR_022503 

p.HIS218LEU

N/A
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N/A
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Congenital disorder of glycosylation 1A (CDG1A)
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Swiss-Prot Polymorphism: VAR_022134 
OMIM Disease: 601785.0002 

p.ASN216ILE

N/A
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N/A
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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
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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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