Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:



Swiss-Prot Protein: Q9BQP7
Identical to: NP_443097
   Default View:


Domains found on the Protein

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

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



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