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Results for the Protein: Q9BQP7
25452901

MGME1_HUMAN RecName: Full=Mitochondrial genome maintenance exonuclease 1; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL DNA DEPLETION SYNDROME 11
  MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (MTDPS11)
3
2
2
1
2
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Swiss-Prot Protein: Q9BQP7
Identical to: NP_443097
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11551768 Polymorphismp.SER15CYSN/A
Swiss-ProtVAR_033758Polymorphismp.SER15CYSN/A
Swiss-ProtVAR_069102Diseasep.TYR233CYSMitochondrial DNA depletion syndrome 11 (MTDPS11)
OMIM615076.0001 Diseasep.TRP152TERMITOCHONDRIAL DNA DEPLETION SYNDROME 11
OMIM615076.0002 Diseasep.TYR233CYSMITOCHONDRIAL DNA DEPLETION SYNDROME 11



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