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Mutations on the Protein: P54098 From Positions: 1053 To 1115

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Swiss-Prot Disease: VAR_023688
p.ALA1105THR
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023686
p.ARG1096CYS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058894
p.ARG1096HIS
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_023685
p.GLY1076VAL
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058895
p.HIS1110TYR
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_023687
p.SER1104CYS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023689
p.VAL1106ILE
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


OMIM Disease: 174763.0022
p.PRO1073LEU
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)||MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), INCLUDED






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