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Mutations on the Protein: P54098 From Positions: 496 To 558

6
4
0
2


Swiss-Prot Polymorphism: VAR_014906
p.ARG546CYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_023669
p.GLN497HIS
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Disease: VAR_058879
p.GLY517VAL
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Disease: VAR_058878
p.SER511ASN
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


OMIM Disease: 174763.0016
p.GLN497HIS
N/A
N/A
SPINOCEREBELLAR ATAXIA WITH EPILEPSY


OMIM Disease: 174763.0020
p.SER511ASN
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1






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