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Results for the Protein: NP_001171475
295821183

propionyl-CoA carboxylase alpha chain, mitochondrial isoform c precursor [Homo sapiens]

Known Diseases associated with this Protein:
  PROPIONIC ACIDEMIA
2
1
2
1
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

PycA - COG1038
DdlA - COG1181
COG4770 - COG4770
AccC - COG0439
CPSase_L_chain - pfam00289
CarB - COG0458
RimK - pfam08443
CPSase_L_D2 - pfam02786
Dala_Dala_lig_C - pfam07478
Biotin_carb_C - smart00878
Biotin_carb_C - pfam02785
AccB - COG0511
lipoyl_domain - cd06849
Biotin_lipoyl - pfam00364
biotinyl_domain - cd06850




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AccCCOG04395e-23562510
DdlACOG11810.0002562378
CarBCOG04583.6e-0665453
AccBCOG05117e-06566681
lipoyl_domaincd068490.00077613680
biotinyl_domaincd068501.9e-13616680
COG4770COG47704.8e-30362681
CPSase_L_chainpfam002895.1e-6963171
CPSase_L_D2pfam027866.5e-132176385
Biotin_carb_Cpfam027851.3e-57397505
Biotin_lipoylpfam003642.7e-13614680
RimKpfam084430.00019174377
Dala_Dala_lig_Cpfam074786.5e-05183375
Biotin_carb_Csmart008789.8e-56397505

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16957356 Polymorphismp.SER582LEUN/A
OMIM232000.0004 Diseasep.ARG288TERPROPIONIC ACIDEMIA
OMIM232000.0005 Diseasep.MET348LYSPROPIONIC ACIDEMIA



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