Mutations on the Protein: Q8NCR0 From Positions: 250 To 275
Swiss-Prot Disease: VAR_069639 

p.VAL252GLY

N/A
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N/A
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Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)
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Swiss-Prot Disease: VAR_069640 

p.VAL268MET

N/A
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N/A
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Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)
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OMIM Disease: 610194.0004 

p.VAL252GLY

N/A
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N/A
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11
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OMIM Disease: 610194.0005 

p.VAL268MET

N/A
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N/A
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11
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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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