Mutations on the Protein: P06276 From Positions: 512 To 542
Swiss-Prot Disease: VAR_040040 
p.GLU525VAL
N/A
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N/A
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Butyrylcholinesterase deficiency (BChE deficiency)
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OMIM Polymorphism: 177400.0005 
p.ALA539THR
N/A
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N/A
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BCHE, K VARIANT||BCHE, QUANTITATIVE K POLYMORPHISM;;||CHE*539T;;||BCHE*539T
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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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