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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31327: Variant p.Arg1453Gln

Carbamoyl-phosphate synthase [ammonia], mitochondrial
Gene: CPS1
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Variant information Variant position: help 1453 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 Arginine (R) to Glutamine (Q) at position 1453 (R1453Q, p.Arg1453Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 CPS1D; the enzyme is inactive. Any additional useful information about the variant.


Sequence information Variant position: help 1453 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1500 The length of the canonical sequence.
Location on the sequence: help DLVINLPNNNTKFVHDNYVI R RTAVDSGIPLLTNFQVTKLF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLF

Mouse                         DLVINLPNNNTKFVHDNYVIRRTAVDSGIALLTNFQVTKLF

Rat                           DLVINLPNNNTKFVHDNYVIRRTAVDSGIALLTNFQVTKLF

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 39 – 1500 Carbamoyl-phosphate synthase [ammonia], mitochondrial
Domain 1355 – 1500 MGS-like
Binding site 1437 – 1437
Binding site 1440 – 1440
Binding site 1449 – 1449
Modified residue 1444 – 1444 N6-acetyllysine; alternate
Modified residue 1444 – 1444 N6-succinyllysine; alternate
Modified residue 1471 – 1471 N6-acetyllysine; alternate
Modified residue 1471 – 1471 N6-succinyllysine; alternate
Helix 1446 – 1459



Literature citations
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
Pekkala S.; Martinez A.I.; Barcelona B.; Yefimenko I.; Finckh U.; Rubio V.; Cervera J.;
Hum. Mutat. 31:801-808(2010)
Cited for: VARIANTS CPS1D PHE-123; ARG-337; ASN-471; PRO-678; LEU-774; LEU-1411; GLN-1453; TRP-1453 AND HIS-1491; VARIANT SER-1376; CHARACTERIZATION OF VARIANTS CPS1D PHE-123; ARG-337; ASN-471; PRO-678; LEU-774; LEU-1411; GLN-1453; TRP-1453 AND HIS-1491; CHARACTERIZATION OF VARIANT SER-1376;
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.