Mutations on the Protein: P54098 From Positions: 867 To 929
Swiss-Prot Disease: VAR_023677 

p.ALA889THR

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_058890 

p.GLN879HIS

N/A
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N/A
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Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
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Swiss-Prot Disease: VAR_023678 

p.GLY923ASP

N/A
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N/A
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Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
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Swiss-Prot Disease: VAR_058892 

p.THR914PRO

N/A
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N/A
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Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
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Swiss-Prot Disease: VAR_058891 

p.THR885SER

N/A
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N/A
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Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
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OMIM Disease: 174763.0008 

p.GLU873TER

N/A
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N/A
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MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
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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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