Mutations on the Protein: P54098 From Positions: 186 To 248
Swiss-Prot Polymorphism: VAR_019267 
Swiss-Prot Disease: VAR_058870 
p.ARG232GLY
N/A
| |
N/A
|
|---|
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
|
|---|
Swiss-Prot Disease: VAR_058871 
p.ARG232HIS
N/A
| |
N/A
|
|---|
Leigh syndrome (LS)
|
|---|
Swiss-Prot Disease: VAR_023663 
p.ARG227TRP
N/A
| |
N/A
|
|---|
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
|
|---|
Swiss-Prot Disease: VAR_058872 
p.LEU244PRO
N/A
| |
N/A
|
|---|
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
|
|---|
OMIM Disease: 174763.0021 
p.ARG227TRP
N/A
| |
N/A
|
|---|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
|---|
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 |
|
6
5
0
1