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Results for the Protein: P05166
124106304

PCCB_HUMAN RecName: Full=Propionyl-CoA carboxylase beta chain, mitochondrial; Short=PCCase subunit beta; AltName: Full=Propanoyl-CoA:carbon dioxide ligase subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  PROPIONIC ACIDEMIA
  PROPIONIC ACIDEMIA TYPE II (PA-2)
31
1
4
0
28
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Default View:

AccD - COG0777
COG4799 - COG4799
Carboxyl_trans - pfam01039


Swiss-Prot Protein: P05166
Identical to: NP_000523
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AccDCOG07772.2e-0721267
COG4799COG47995.1e-29124539
Carboxyl_transpfam010398.1e-29657533

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023850Diseasep.ALA153PROPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023858Diseasep.ALA468THRPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000279Diseasep.ALA497VALPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000280Diseasep.ARG512CYSPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023851Diseasep.ARG165GLNPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000271Diseasep.ARG44PROPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023847Diseasep.ARG67SERPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000274Diseasep.ARG165TRPPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000278Diseasep.ARG410TRPPropionic acidemia type II (PA-2)
Swiss-ProtVAR_009086Diseasep.ASN536ASPPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000275Diseasep.GLU168LYSPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000273Diseasep.GLY131ARGPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023852Diseasep.GLY188ARGPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023849Diseasep.GLY112ASPPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000276Diseasep.GLY198ASPPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023853Diseasep.GLY246VALPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023855Diseasep.ILE430LEUPropionic acidemia type II (PA-2)
Swiss-ProtVAR_009080Diseasep.LEU17METPropionic acidemia type II (PA-2)
Swiss-ProtVAR_000281Diseasep.LEU519PROPropionic acidemia type II (PA-2)
Swiss-ProtVAR_009085Diseasep.MET442THRPropionic acidemia type II (PA-2)
Swiss-ProtVAR_009083Diseasep.PRO228LEUPropionic acidemia type II (PA-2)
Swiss-ProtVAR_048163Polymorphismp.PRO287SERN/A
Swiss-ProtVAR_000272Diseasep.SER106ARGPropionic acidemia type II (PA-2)
Swiss-ProtVAR_009084Diseasep.THR428ILEPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023856Diseasep.TYR435CYSPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023857Diseasep.TYR439CYSPropionic acidemia type II (PA-2)
Swiss-ProtVAR_009082Diseasep.VAL205ASPPropionic acidemia type II (PA-2)
Swiss-ProtVAR_023848Diseasep.VAL107METPropionic acidemia type II (PA-2)
OMIM232050.0001 Diseasep.ARG392TRPPROPIONIC ACIDEMIA
OMIM232050.0005 Diseasep.GLU148LYSPROPIONIC ACIDEMIA
OMIM232050.0006 Diseasep.THR408ILEPROPIONIC ACIDEMIA
OMIM232050.0008 Diseasep.TYR415CYSPROPIONIC ACIDEMIA



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