Variant position: 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 325 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 ANTLMALQMGVSVVDSSVAG LGGCPYAQGASGNLATEDLVY
Mouse ANTLVALQMGVSVVDSSVAG LGGCPYAKGASGNLATEDLVY
Rat ANTLVALQMGVSVVDSSVAG LGGCPYAKGASGNLATEDLVY
Bovine ANTLTALQMGVSVMDSSVAG LGGCPYAQGASGNLATEDLVY
Chicken ANILVALQMGVSVVDASVAG LGGCPYAQGASGNVATEDLVY
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
28 – 325 Hydroxymethylglutaryl-CoA lyase, mitochondrial
33 – 300 Pyruvate carboxyltransferase
266 – 266
275 – 275 Divalent metal cation
266 – 266 C -> A. Loss of activity.
279 – 279 E -> A. Reduced thermal stability, but normal activity.
280 – 280 D -> A. Normal activity.
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
Zapater N.; Pie J.; Lloberas J.; Rolland M.O.; Leroux B.; Vidailhet M.; Divry P.; Hegardt F.G.; Casals N.;
Arch. Biochem. Biophys. 358:197-203(1998)
Cited for: VARIANTS HMGCLD ARG-233 AND PRO-263;
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