Mutations on the Protein: P54098 From Positions: 496 To 558
Swiss-Prot Polymorphism: VAR_014906 
Swiss-Prot Disease: VAR_023669 
p.GLN497HIS
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_058879 
p.GLY517VAL
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_058878 
p.SER511ASN
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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OMIM Disease: 174763.0016 
p.GLN497HIS
N/A
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N/A
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SPINOCEREBELLAR ATAXIA WITH EPILEPSY
|
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OMIM Disease: 174763.0020 
p.SER511ASN
N/A
| |
N/A
|
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PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1
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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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