Results for the protein: P24752

Results for the Protein: P24752

135755

38

ACAT1

NCBI, UniProt

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

Tips:

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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 ↕
PaaJ	COG0183	1.1e-143	39	427
thiolase	cd00751	3.7e-212	43	426
nondecarbox_cond_enz	cd00826	4.6e-68	45	426
SCP-x_thiolase	cd00829	1.5e-05	45	424
Thiolase_N	pfam00108	1.9e-159	39	299
Thiolase_C	pfam02803	1.4e-71	306	426

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007503	Disease	p.ALA301PRO	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007505	Disease	p.ALA333PRO	3-ketothiolase deficiency (3KTD)
dbSNP	rs3741056	Polymorphism	p.ALA5PRO	N/A
Swiss-Prot	VAR_007507	Disease	p.ALA380THR	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007500	Disease	p.ASN158ASP	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007498	Disease	p.ASN93SER	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007499	Disease	p.GLY152ALA	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007501	Disease	p.GLY183ARG	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007506	Disease	p.GLY379VAL	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007504	Disease	p.ILE312THR	3-ketothiolase deficiency (3KTD)
Swiss-Prot	VAR_007502	Disease	p.THR297MET	3-ketothiolase deficiency (3KTD)
OMIM	607809.0014	Disease	p.ALA333PRO	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0001	Disease	p.ALA347THR	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0012	Disease	p.ASN93SER	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0015	Disease	p.GLN145GLU	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0009	Disease	p.GLN272TER	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0002	Disease	p.GLY150ARG	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0008	Disease	p.GLY379VAL	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0013	Disease	p.ILE312THR	3-@KETOTHIOLASE DEFICIENCY
OMIM	607809.0007	Disease	p.MET1LYS	3-@KETOTHIOLASE DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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