Variant position: 301 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 427 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ANASTLNDGAAALVLMTADA AKRLNVTPLARIVAFADAAVE
Mouse ANASTLNDGAAALVLMTAEA AQRLNVKPLARIAAFADAAVD
Rat ANASTLNDGAAAVVLMTAEA AQRLKVKPLARIAAFADAAVD
Bovine ANASTLNDGAAAVVLMTADA AKRLNVKPLARIAAFADAAVE
Xenopus tropicalis ANASTLNDGAAALVLMTAGA ASRLNVTPLARIVAFADAAVD
Zebrafish ANASTLNDGAAALVLMTADA AQRLNVTPLAKIVAFADAAVA
Baker's yeast ANASPINDGAAAVILVSEKV LKEKNLKPLAIIKGWGEAAHQ
Fission yeast ANASTLNDGASALVLMSAAK VKELGLKPLAKIIGWGEAAQD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
34 – 427 Acetyl-CoA acetyltransferase, mitochondrial
281 – 281 Potassium; via carbonyl oxygen
283 – 283 Potassium; via carbonyl oxygen
284 – 284 Coenzyme A
163 – 427 Missing. In isoform 2.
298 – 303
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
Wakazono A.; Fukao T.; Yamaguchi S.; Hori T.; Orii T.; Lambert M.; Mitchell G.A.; Lee G.W.; Hashimoto T.;
Hum. Mutat. 5:34-42(1995)
Cited for: VARIANTS 3KTD ASP-158; MET-297 AND PRO-301;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.