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Mutations on the Protein: P54098 From Positions: 558 To 620

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Swiss-Prot Disease: VAR_058880
p.ARG562GLN
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058881
p.ARG574TRP
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023670
p.ARG579TRP
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058882
p.MET603LEU
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023671
p.PRO587LEU
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


OMIM Disease: 174763.0011
p.PRO587LEU
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETI






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