Mutations on the Protein: P54098 From Positions: 620 To 681
Swiss-Prot Disease: VAR_058883 
p.ARG627GLN
N/A
| |
N/A
|
|---|
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
|
|---|
Swiss-Prot Disease: VAR_023672 
p.ARG627TRP
N/A
| |
N/A
|
|---|
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
|
|---|
Swiss-Prot Polymorphism: VAR_014907 
Swiss-Prot Disease: VAR_058884 
p.PRO648ARG
N/A
| |
N/A
|
|---|
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
|
|---|
OMIM Disease: 174763.0005 
p.ARG627TRP
N/A
| |
N/A
|
|---|
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
|
|---|
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 |
|
5
4
0
1