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Results for the Protein: Q16134
292495008

ETFD_HUMAN RecName: Full=Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; Short=ETF-QO; Short=ETF-ubiquinone oxidoreductase; AltName: Full=Electron-transferring-flavoprotein dehydrogenase; Short=ETF dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
  GLUTARIC ACIDEMIA IIC
  GLUTARIC ACIDEMIA IIC, LATE-ONSET
7
3
7
1
2
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Default View:

FixC - COG0644
ETF_QO - pfam05187
FixX - COG2440


Swiss-Prot Protein: Q16134
Identical to: NP_004444
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FixCCOG06444.1e-12566529
ETF_QOpfam051873.6e-75463572
FixXCOG24400.00029519616

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_055711Polymorphismp.HIS94ARGN/A
dbSNPrs11559290 Polymorphismp.THR31ILEN/A
Swiss-ProtVAR_036134Polymorphismp.VAL565LEUN/A
OMIM231675.0003 Diseasep.ALA84THRGLUTARIC ACIDEMIA IIC
OMIM231675.0006 Diseasep.ARG175HISGLUTARIC ACIDEMIA IIC
OMIM231675.0004 Diseasep.ARG175LEUGLUTARIC ACIDEMIA IIC
OMIM231675.0005 Diseasep.LEU127HISGLUTARIC ACIDEMIA IIC
OMIM231675.0007 Diseasep.LEU377PROGLUTARIC ACIDEMIA IIC, LATE-ONSET
OMIM231675.0001 Diseasep.MET1THRGLUTARIC ACIDEMIA IIC
OMIM231675.0008 Diseasep.PRO483LEUGLUTARIC ACIDEMIA IIC, LATE-ONSET



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