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Results for the Protein: P11310
113017
34

ACADM_HUMAN RecName: Full=Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=MCAD; Flags: Precursor

Known Diseases associated with this Protein:
  ACYL-COA DEHYDROGENASE MEDIUM-CHAIN DEFICIENCY (ACADMD)
19
1
0
0
20
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Acyl-CoA_dh_2 - pfam08028


Swiss-Prot Protein: P11310
Identical to: NP_000007
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Acyl-CoA_dh_2pfam080282.4e-19282405

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000317Diseasep.ARG53CYSAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_015957Diseasep.ARG206LEUAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_013700Diseasep.ARG281THRAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000322Diseasep.CYS244ARGAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_015955Diseasep.CYS116TYRAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000321Diseasep.GLY195ARGAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000323Diseasep.GLY267ARGAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_015958Diseasep.GLY310ARGAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000327Diseasep.ILE375THRAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_015954Diseasep.ILE78THRAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000325Diseasep.LYS329GLUAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000319Diseasep.MET149ILEAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000324Diseasep.MET326THRAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_035716Polymorphismp.PRO132ARGN/A
Swiss-ProtVAR_000326Diseasep.SER336ARGAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_013699Diseasep.SER245LEUAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_000320Diseasep.THR193ALAAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_015956Diseasep.THR121ILEAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_015959Diseasep.TYR352CYSAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-ProtVAR_013698Diseasep.TYR67HISAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)



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