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Mutations on the Protein: P54098 From Positions: 248 To 310

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5
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Swiss-Prot Disease: VAR_023665
p.ARG309LEU
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058875
p.GLN308HIS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058873
p.GLY268ALA
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_012154
p.LEU304ARG
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023664
p.THR251ILE
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


OMIM Disease: 174763.0003
p.LEU304ARG
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE


OMIM Disease: 174763.0007
p.THR251ILE
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||MITOCHONDRIAL DNA DEPLETION






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