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Mutations on the Protein: P54098 From Positions: 805 To 867

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Swiss-Prot Disease: VAR_058887
p.ARG807CYS
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Disease: VAR_058888
p.ARG807PRO
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058889
p.ARG853TRP
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023676
p.ASN864SER
N/A
N/A
Mitochondrial DNA depletion syndrome 4B (MTDPS4B)


Swiss-Prot Disease: VAR_023675
p.GLY848SER
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023674
p.TYR831CYS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


OMIM Disease: 174763.0018
p.ARG853TRP
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE


OMIM Disease: 174763.0012
p.ASN864SER
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)


OMIM Disease: 174763.0006
p.GLY848SER
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHA


OMIM Disease: 174763.0015
p.TYR831CYS
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1






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