Variant position: 1443 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1500 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 IRKLIRDGSIDLVINLPNNN TKFVHDNYVIRRTAVDSGIPL
Mouse IRKLIRDGSIDLVINLPNNN TKFVHDNYVIRRTAVDSGIAL
Rat IRKLIRDGSIDLVINLPNNN TKFVHDNYVIRRTAVDSGIAL
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.
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;
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