Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: P54098 From Positions: 929 To 991

9
6
0
3



Swiss-Prot Disease: VAR_058893
p.ALA957PRO
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_023682
p.ALA957SER
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


Swiss-Prot Disease: VAR_023681
p.ARG953CYS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


Swiss-Prot Disease: VAR_023680
p.ARG943HIS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


Swiss-Prot Disease: VAR_023679
p.HIS932TYR
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Disease: VAR_012156
p.TYR955CYS
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


OMIM Disease: 174763.0014
p.ALA957SER
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1


OMIM Disease: 174763.0009
p.HIS932TYR
N/A
N/A
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS


OMIM Disease: 174763.0001
p.TYR955CYS
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1






   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258