Variant position: 312 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 ALVLMTADAAKRLNVTPLAR IVAFADAAVEPIDFPIAPVYA
Mouse ALVLMTAEAAQRLNVKPLAR IAAFADAAVDPIDFPLAPAYA
Rat AVVLMTAEAAQRLKVKPLAR IAAFADAAVDPIDFPLAPAYA
Bovine AVVLMTADAAKRLNVKPLAR IAAFADAAVEPIDFPLAPAYA
Xenopus tropicalis ALVLMTAGAASRLNVTPLAR IVAFADAAVDPIDFPIAPAYA
Zebrafish ALVLMTADAAQRLNVTPLAK IVAFADAAVAPIDFPIAPAFA
Baker's yeast AVILVSEKVLKEKNLKPLAI IKGWGEAAHQPADFTWAPSLA
Fission yeast ALVLMSAAKVKELGLKPLAK IIGWGEAAQDPERFTTSPSLA
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
163 – 427 Missing. In isoform 2.
310 – 319
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.
Fukao T.; Nakamura H.; Song X.-Q.; Nakamura K.; Orii K.E.; Kohno Y.; Kano M.; Yamaguchi S.; Hashimoto T.; Orii T.; Kondo N.;
Hum. Mutat. 12:245-254(1998)
Cited for: VARIANTS 3KTD SER-93; THR-312 AND PRO-333; CHARACTERIZATION OF VARIANTS 3KTD SER-93; THR-312 AND PRO-333; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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.