Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9Y375
21542405

CIA30_HUMAN RecName: Full=Complex I intermediate-associated protein 30, mitochondrial; AltName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX I DEFICIENCY
4
5
4
4
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:

CIA30 - pfam08547


Swiss-Prot Protein: Q9Y375
Identical to: NP_057097
   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 ↕
dbSNPrs12900702 Polymorphismp.ALA314GLYN/A
dbSNPrs1899 Polymorphismp.ARG9HISN/A
dbSNPrs3204853 Polymorphismp.ARG31LEUN/A
Swiss-ProtVAR_013561Polymorphismp.GLU176LYSN/A
dbSNPrs34979001 Polymorphismp.ILE186METN/A
OMIM606934.0003 Diseasep.ARG211CYSMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM606934.0004 Diseasep.GLY245ARGMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM606934.0002 Diseasep.LYS253ARGMITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM606934.0001 Diseasep.THR207PROMITOCHONDRIAL COMPLEX I DEFICIENCY



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