Mutations on the Protein: P06276 From Positions: 482 To 512
Swiss-Prot Disease: VAR_040037 
p.GLU488LYS
N/A
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N/A
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Butyrylcholinesterase deficiency (BChE deficiency)
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Swiss-Prot Disease: VAR_040039 
p.PHE502LEU
N/A
| |
N/A
|
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Butyrylcholinesterase deficiency (BChE deficiency)
|
|---|
Swiss-Prot Disease: VAR_040038 
p.TRP499ARG
N/A
| |
N/A
|
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Butyrylcholinesterase deficiency (BChE deficiency)
|
|---|
OMIM Disease: 177400.0006 
p.GLU497VAL
N/A
| |
N/A
|
|---|
BCHE, J VARIANT||BCHE, QUANTITATIVE J VARIANT
|
|---|
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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