Variant position: 337 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 GQNQPVLNITNKQAFITAQN HGYALDNTLPAGWKPLFVNVN
Mouse GQNQPVLNITNRQAFITAQN HGYALDNTLPAGWKPLFVNVN
Rat GQNQPVLNITNRQAFITAQN HGYALDNTLPAGWKPLFVNVN
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
1 – 451 Missing. In isoform 2.
330 – 341
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Aoshima T.; Kajita M.; Sekido Y.; Kikuchi S.; Yasuda I.; Saheki T.; Watanabe K.; Shimokata K.; Niwa T.;
Hum. Hered. 52:99-101(2001)
Cited for: VARIANT CPS1D ARG-337;
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;
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.