Mutations on the Protein: NP_001124388 From Positions: 320 To 341
OMIM Disease: 190181.0012 

p.ARG337TER

N/A
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N/A
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MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
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OMIM Disease: 190181.0002 

p.ASP323GLY

N/A
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N/A
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LOEYS-DIETZ SYNDROME, TYPE 1A
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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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