Mutations on the Protein: P54098 From Positions: 434 To 496
Swiss-Prot Disease: VAR_012155 
p.ALA467THR
N/A
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N/A
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Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
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Swiss-Prot Disease: VAR_023668 
p.ASN468ASP
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 Polymorphism: VAR_058877 
OMIM Disease: 174763.0002 
p.ALA467THR
N/A
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N/A
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PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY,
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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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