Variant position: 390 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 PFFAVQFHPEVTPGPIDTEY LFDSFFSLIKKGKATTITSVL
Mouse PFFAVQFHPEVSPGPTDTEY LFDSFFSLIKKGKGTTITSVL
Rat PFFAVQFHPEVSPGPTDTEY LFDSFFSLIKKGKGTTITSVL
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
39 – 1500 Carbamoyl-phosphate synthase [ammonia], mitochondrial
219 – 404 Glutamine amidotransferase type-1
400 – 400 N6-succinyllysine
402 – 402 N6-glutaryllysine; alternate
402 – 402 N6-succinyllysine; alternate
1 – 451 Missing. In isoform 2.
389 – 400
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;
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.