Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q8N5M1
73917623

ATPF2_HUMAN RecName: Full=ATP synthase mitochondrial F1 complex assembly factor 2; AltName: Full=ATP12 homolog; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
  MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR 1 (MC5DN1)
2
0
1
0
1
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:

COG5387 - COG5387
ATP12 - pfam07542


Swiss-Prot Protein: Q8N5M1
Identical to: NP_663729
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5387COG53876.7e-3112274
ATP12pfam075428.8e-5947169

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023386Diseasep.TRP94ARGMitochondrial complex V deficiency, nuclear 1 (MC5DN1)
OMIM608918.0001 Diseasep.TRP94ARGMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1



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