Mutations on the Protein: P42336 From Positions: 320 To 374
Swiss-Prot Disease: VAR_069253 
p.GLU365LYS
N/A
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N/A
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Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
|
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Swiss-Prot Disease: VAR_069252 
p.GLY364ARG
N/A
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N/A
|
|---|
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
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Swiss-Prot Polymorphism: VAR_042943 
Swiss-Prot Polymorphism: VAR_026169 
Swiss-Prot Polymorphism: VAR_069789 
OMIM Disease: 171834.0018 
p.VAL356ILE
N/A
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N/A
|
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COWDEN DISEASE 5
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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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