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Results for the Protein: P55084
116241345

ECHB_HUMAN RecName: Full=Trifunctional enzyme subunit beta, mitochondrial; AltName: Full=TP-beta; Includes: RecName: Full=3-ketoacyl-CoA thiolase; AltName: Full=Acetyl-CoA acyltransferase; AltName: Full=Beta-ketothiolase; Flags: Precursor

Known Diseases associated with this Protein:
  TRIFUNCTIONAL PROTEIN DEFICIENCY
  TRIFUNCTIONAL PROTEIN DEFICIENCY (TFP DEFICIENCY)
19
3
5
0
17
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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: P55084
Identical to: NP_000174
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PaaJCOG01832e-12051472
thiolasecd007514.1e-19055471
nondecarbox_cond_enzcd008265.4e-2757471
SCP-x_thiolasecd008291.8e-0657472
Thiolase_Npfam001082.3e-13751324
Thiolase_Cpfam028038.7e-83331471

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035705Polymorphismp.ALA119VALN/A
Swiss-ProtVAR_021129Diseasep.ARG61CYSTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021130Diseasep.ARG117GLYTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_007494Diseasep.ARG247HISTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_007493Diseasep.ARG61HISTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_017409Diseasep.ARG444LYSTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021133Diseasep.ASP242GLYTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_007495Diseasep.ASP263GLYTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021135Diseasep.GLY280ASPTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021128Diseasep.GLY59ASPTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021138Diseasep.GLY301SERTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021131Diseasep.LEU121PROTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_061897Polymorphismp.LYS277ARGN/A
Swiss-ProtVAR_021137Diseasep.PRO294ARGTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021136Diseasep.PRO294LEUTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_028231Polymorphismp.PRO209SERN/A
Swiss-ProtVAR_021132Diseasep.THR133PROTrifunctional protein deficiency (TFP deficiency)
OMIM143450.0003 Diseasep.ARG247HISTRIFUNCTIONAL PROTEIN DEFICIENCY
OMIM143450.0002 Diseasep.ARG61HISTRIFUNCTIONAL PROTEIN DEFICIENCY
OMIM143450.0004 Diseasep.ARG411LYSTRIFUNCTIONAL PROTEIN DEFICIENCY
OMIM143450.0001 Diseasep.ASP263GLYTRIFUNCTIONAL PROTEIN DEFICIENCY
OMIM143450.0006 Diseasep.VAL422GLYTRIFUNCTIONAL PROTEIN DEFICIENCY



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