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Results for the Protein: NP_001171485
295821216

propionyl-CoA carboxylase beta chain, mitochondrial isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  PROPIONIC ACIDEMIA
4
0
4
0
0
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Default View:

AccD - COG0777
COG4799 - COG4799
Carboxyl_trans - pfam01039




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4799COG47999.8e-28124559
Carboxyl_transpfam010391.8e-28557553

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM232050.0001 Diseasep.ARG412TRPPROPIONIC ACIDEMIA
OMIM232050.0005 Diseasep.GLU168LYSPROPIONIC ACIDEMIA
OMIM232050.0006 Diseasep.THR428ILEPROPIONIC ACIDEMIA
OMIM232050.0008 Diseasep.TYR435CYSPROPIONIC ACIDEMIA



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