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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11498: Variant p.Val145Ala

Pyruvate carboxylase, mitochondrial
Gene: PC
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Variant information Variant position: help 145 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Valine (V) to Alanine (A) at position 145 (V145A, p.Val145Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In PC deficiency; mild; strongly reduced pyruvate carboxylase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 145 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1178 The length of the canonical sequence.
Location on the sequence: help ADFAQACQDAGVRFIGPSPE V VRKMGDKVEARAIAIAAGVP 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.
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 21 – 1178 Pyruvate carboxylase, mitochondrial
Domain 36 – 486 Biotin carboxylation
Binding site 152 – 152
Modified residue 148 – 148 N6-acetyllysine
Modified residue 152 – 152 N6-acetyllysine
Helix 143 – 148



Literature citations
Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.
Wexler I.D.; Kerr D.S.; Du Y.; Kaung M.M.; Stephenson W.; Lusk M.M.; Wappner R.S.; Higgins J.J.;
Pediatr. Res. 43:579-584(1998)
Cited for: VARIANTS PC DEFICIENCY ALA-145 AND CYS-451; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS PC DEFICIENCY ALA-145 AND CYS-451; COFACTOR; Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S.; Serre V.; Chadefaux-Vekemans B.; Aupetit J.; Romano S.; De Lonlay P.; Rival J.-M.; Munnich A.; Steffann J.; Bonnefont J.-P.;
Hum. Mutat. 30:734-740(2009)
Cited for: VARIANTS PC DEFICIENCY ALA-145; GLN-156; TRP-270; CYS-304; CYS-451; LEU-583; THR-610; GLN-631; ILE-743 AND 1131-VAL--LYS-1133 DEL;
Disclaimer: 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.