Mutations on the Protein: P54098 From Positions: 558 To 620
Swiss-Prot Disease: VAR_058880 
p.ARG562GLN
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_058881 
p.ARG574TRP
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_023670 
p.ARG579TRP
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_058882 
p.MET603LEU
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_023671 
p.PRO587LEU
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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OMIM Disease: 174763.0011 
p.PRO587LEU
N/A
| |
N/A
|
|---|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETI
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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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