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Results for the Protein: Q9HCC0
20138731

MCCB_HUMAN RecName: Full=Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; Short=MCCase subunit beta; AltName: Full=3-methylcrotonyl-CoA carboxylase 2; AltName: Full=3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; AltName: Full=3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  3-@METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
  METHYLCROTONOYL-COA CARBOXYLASE 2 DEFICIENCY (MCC2D)
20
1
8
0
13
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Default View:

COG4799 - COG4799
Carboxyl_trans - pfam01039


Swiss-Prot Protein: Q9HCC0
Identical to: NP_071415
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4799COG47991.2e-28239563
Carboxyl_transpfam010393.2e-21174556

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038630Polymorphismp.ALA478GLYN/A
Swiss-ProtVAR_012797Diseasep.ALA218THRMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012796Diseasep.ARG193CYSMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012793Diseasep.ARG155GLNMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012798Diseasep.ARG268THRMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_067199Diseasep.ASP280TYRMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012794Diseasep.CYS167ARGMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012792Diseasep.GLU99GLNMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012801Diseasep.ILE437VALMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012799Diseasep.PRO310ARGMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_067200Diseasep.PRO459SERMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012795Diseasep.SER173LEUMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-ProtVAR_012800Diseasep.VAL339METMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
OMIM609014.0003 Diseasep.ARG155GLN3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0006 Diseasep.ARG268THR3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0009 Diseasep.ASP280TYR3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0005 Diseasep.CYS167ARG3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0002 Diseasep.GLU99GLN3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0008 Diseasep.HIS190ARG3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0007 Diseasep.ILE437VAL3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM609014.0004 Diseasep.PRO310ARG3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY



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