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Results for the Protein: P24752
135755
38

THIL_HUMAN RecName: Full=Acetyl-CoA acetyltransferase, mitochondrial; AltName: Full=Acetoacetyl-CoA thiolase; AltName: Full=T2; Flags: Precursor

Known Diseases associated with this Protein:
  3-@KETOTHIOLASE DEFICIENCY
  3-KETOTHIOLASE DEFICIENCY (3KTD)
19
1
9
1
10
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Default View:

cond_enzymes - cd00327
PaaJ - COG0183
Thiolase_N - pfam00108
thiolase - cd00751
nondecarbox_cond_enz - cd00826
SCP-x_thiolase - cd00829
Thiolase_C - pfam02803


Swiss-Prot Protein: P24752
Identical to: NP_000010
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
cond_enzymescd003271.1e-382424
PaaJCOG01831.1e-14339427
thiolasecd007513.7e-21243426
nondecarbox_cond_enzcd008264.6e-6845426
SCP-x_thiolasecd008291.5e-0545424
Thiolase_Npfam001081.9e-15939299
Thiolase_Cpfam028031.4e-71306426

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007503Diseasep.ALA301PRO3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007505Diseasep.ALA333PRO3-ketothiolase deficiency (3KTD)
dbSNPrs3741056 Polymorphismp.ALA5PRON/A
Swiss-ProtVAR_007507Diseasep.ALA380THR3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007500Diseasep.ASN158ASP3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007498Diseasep.ASN93SER3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007499Diseasep.GLY152ALA3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007501Diseasep.GLY183ARG3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007506Diseasep.GLY379VAL3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007504Diseasep.ILE312THR3-ketothiolase deficiency (3KTD)
Swiss-ProtVAR_007502Diseasep.THR297MET3-ketothiolase deficiency (3KTD)
OMIM607809.0014 Diseasep.ALA333PRO3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0001 Diseasep.ALA347THR3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0012 Diseasep.ASN93SER3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0015 Diseasep.GLN145GLU3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0009 Diseasep.GLN272TER3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0002 Diseasep.GLY150ARG3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0008 Diseasep.GLY379VAL3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0013 Diseasep.ILE312THR3-@KETOTHIOLASE DEFICIENCY
OMIM607809.0007 Diseasep.MET1LYS3-@KETOTHIOLASE DEFICIENCY



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