Mutations on the Protein: P54098 From Positions: 248 To 310
Swiss-Prot Disease: VAR_023665 
p.ARG309LEU
N/A
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N/A
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Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
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Swiss-Prot Disease: VAR_058875 
p.GLN308HIS
N/A
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N/A
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Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
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Swiss-Prot Disease: VAR_058873 
p.GLY268ALA
N/A
| |
N/A
|
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Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
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Swiss-Prot Disease: VAR_012154 
p.LEU304ARG
N/A
| |
N/A
|
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Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
|
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Swiss-Prot Disease: VAR_023664 
p.THR251ILE
N/A
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N/A
|
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Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
|
|---|
OMIM Disease: 174763.0003 
p.LEU304ARG
N/A
| |
N/A
|
|---|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE
|
|---|
OMIM Disease: 174763.0007 
p.THR251ILE
N/A
| |
N/A
|
|---|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||MITOCHONDRIAL DNA DEPLETION
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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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