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Mutations on the Protein: P54098 From Positions: 1115 To 1177

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5
1
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Swiss-Prot Disease: VAR_014910
p.ARG1146CYS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Polymorphism: VAR_014908
p.ARG1142TRP
N/A
N/A
N/A


dbSNP Polymorphism: rs2307441
p.GLU1143GLY
N/A
N/A
N/A


Swiss-Prot Disease: VAR_065092
p.GLU1136LYS
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_058896
p.HIS1134ARG
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_023690
p.SER1176LEU
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)






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