Mutations on the Protein: Q03468 From Positions: 970 To 1045
Swiss-Prot Polymorphism: VAR_036023 
Swiss-Prot Disease: VAR_063515 
p.LEU987PRO
N/A
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N/A
|
|---|
Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)
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Swiss-Prot Disease: VAR_001221 
p.PRO1042LEU
N/A
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N/A
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Cockayne syndrome B (CSB)
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Swiss-Prot Polymorphism: VAR_016304 
OMIM Disease: 609413.0013 
p.LEU987PRO
N/A
| |
N/A
|
|---|
CEREBROOCULOFACIOSKELETAL SYNDROME 1
|
|---|
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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