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Results for the Protein: P55809
2492998

SCOT1_HUMAN RecName: Full=Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; AltName: Full=3-oxoacid CoA-transferase 1; AltName: Full=Somatic-type succinyl-CoA:3-oxoacid CoA-transferase; Short=SCOT-s; Flags: Precursor

Known Diseases associated with this Protein:
  SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY (SCOTD)
  SUCCINYL-COA:3-OXOACID COA TRANSFERASE DEFICIENCY
16
1
5
0
12
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Default View:

AtoD - COG1788
CoA_trans - pfam01144
COG4670 - COG4670
AtoA - COG2057


Swiss-Prot Protein: P55809
Identical to: NP_000427
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AtoDCOG17882.2e-12839275
COG4670COG46702.1e-1142520
CoA_transpfam011441.6e-11142272
AtoACOG20571.5e-121294520
CoA_transpfam011448.8e-74301501

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065564Diseasep.ALA215VALSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_065569Diseasep.ARG468CYSSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_000697Diseasep.CYS456PHESuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_010337Diseasep.GLY219GLUSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_010339Diseasep.GLY324GLUSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_065566Diseasep.LEU327PROSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_065565Diseasep.SER226ASNSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_065568Diseasep.SER405PROSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_000695Polymorphismp.THR58METN/A
Swiss-ProtVAR_000696Diseasep.VAL133GLUSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_010338Diseasep.VAL221METSuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
Swiss-ProtVAR_065567Diseasep.VAL404PHESuccinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)
OMIM601424.0002 Diseasep.CYS456PHESUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
OMIM601424.0005 Diseasep.GLY219GLUSUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
OMIM601424.0004 Diseasep.GLY324GLUSUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
OMIM601424.0001 Diseasep.SER283TERSUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
OMIM601424.0006 Diseasep.VAL221METSUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY



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