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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31327: Variant p.Ala1378Thr

Carbamoyl-phosphate synthase [ammonia], mitochondrial
Gene: CPS1
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Variant information Variant position: help 1378 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 Alanine (A) to Threonine (T) at position 1378 (A1378T, p.Ala1378Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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 CPS1D; significant reduction in thermal stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1378 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 PQKGILIGIQQSFRPRFLGV A EQLHNEGFKLFATEATSDWL 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                         PQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWL

Mouse                         PQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWL

Rat                           PQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWL

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 1391 – 1391
Binding site 1394 – 1394
Modified residue 1360 – 1360 N6-glutaryllysine; alternate
Modified residue 1360 – 1360 N6-succinyllysine; alternate
Helix 1371 – 1383



Literature citations
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
Eeds A.M.; Hall L.D.; Yadav M.; Willis A.; Summar S.; Putnam A.; Barr F.; Summar M.L.;
Mol. Genet. Metab. 89:80-86(2006)
Cited for: VARIANTS CPS1D GLU-301; CYS-389; ARG-390; THR-589; SER-640; LYS-716; LEU-805; VAL-911; PRO-958; SER-982; PHE-998; LEU-1089; PRO-1203; ASN-1205; PRO-1331; THR-1378; LEU-1411 AND ALA-1443; Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Diez-Fernandez C.; Martinez A.I.; Pekkala S.; Barcelona B.; Perez-Arellano I.; Guadalajara A.M.; Summar M.; Cervera J.; Rubio V.;
Hum. Mutat. 34:1149-1159(2013)
Cited for: VARIANTS CPS1D ASP-355; CYS-389; ARG-390; PRO-438; MET-544; THR-1378; SER-1381 AND ALA-1443; VARIANTS ALA-344 AND SER-1376; CHARACTERIZATION OF VARIANTS CPS1D ASP-355; CYS-389; ARG-390; PRO-438; MET-544; THR-1378; SER-1381 AND ALA-1443; CHARACTERIZATION OF VARIANTS ALA-344 AND SER-1376; SUBUNIT; PROTEOLYTIC CLEAVAGE; BIOPHYSICOCHEMICAL PROPERTIES; ACTIVITY REGULATION; CATALYTIC ACTIVITY;
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.