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Mutations on the Protein: P54098 From Positions: 186 To 248

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Swiss-Prot Polymorphism: VAR_019267
p.ARG193GLN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_058870
p.ARG232GLY
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_058871
p.ARG232HIS
N/A
N/A
Leigh syndrome (LS)


Swiss-Prot Disease: VAR_023663
p.ARG227TRP
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058872
p.LEU244PRO
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


OMIM Disease: 174763.0021
p.ARG227TRP
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)






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