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Results for the Protein: Q96H96
74731901

COQ2_HUMAN RecName: Full=4-hydroxybenzoate polyprenyltransferase, mitochondrial; AltName: Full=COQ2 homolog; Short=hCOQ2; AltName: Full=Para-hydroxybenzoate--polyprenyltransferase; Short=PHB:polyprenyltransferase; Flags: Precursor

Known Diseases associated with this Protein:
  COENZYME Q10 DEFICIENCY, PRIMARY, 1 (COQ10D1)
  MULTIPLE SYSTEM ATROPHY 1 (MSA1)
15
4
0
0
19
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Default View:

CyoE - COG0109
UbiA - COG0382
UbiA - pfam01040


Swiss-Prot Protein: Q96H96
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
UbiACOG03821.3e-8862352
UbiApfam010402.6e-2886346

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070250Diseasep.ARG337GLNMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_068162Diseasep.ARG147HISCoenzyme Q10 deficiency, primary, 1 (COQ10D1)
Swiss-ProtVAR_070242Polymorphismp.ARG69HISN/A
Swiss-ProtVAR_070249Polymorphismp.ASN336HISN/A
Swiss-ProtVAR_068163Diseasep.ASN178SERCoenzyme Q10 deficiency, primary, 1 (COQ10D1)
Swiss-ProtVAR_070244Diseasep.ILE97THRMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070237Polymorphismp.LEU16VALN/A
Swiss-ProtVAR_070243Diseasep.MET78VALMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070239Diseasep.PHE29LEUMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070240Diseasep.PRO49HISMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070238Polymorphismp.PRO22LEUN/A
Swiss-ProtVAR_070245Diseasep.PRO107SERMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_068161Diseasep.SER96ASNCoenzyme Q10 deficiency, primary, 1 (COQ10D1)
Swiss-ProtVAR_070248Diseasep.SER297CYSMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070246Diseasep.SER113PHEMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070241Diseasep.SER57THRMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_070247Diseasep.THR267ALAMultiple system atrophy 1 (MSA1)
Swiss-ProtVAR_025701Diseasep.TYR247CYSCoenzyme Q10 deficiency, primary, 1 (COQ10D1)
Swiss-ProtVAR_070251Diseasep.VAL343ALAMultiple system atrophy 1 (MSA1)



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