Variant position: 843 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 FTPRLPMNKEWPSNLDLRKE LSEPSSTRIYAIAKAIDDNMS
Mouse FTPRLPMNKEWPANLDLKKE LSEPSSTRIYAIAKALENNMS
Rat FTPRLPMNKEWPANLDLRKE LSEPSSTRIYAIAKALENNMS
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
831 – 831 N6-acetyllysine; alternate
831 – 831 N6-succinyllysine; alternate
835 – 835 Phosphoserine
841 – 841 N6-acetyllysine; alternate
841 – 841 N6-glutaryllysine; alternate
856 – 856 N6-acetyllysine; alternate
856 – 856 N6-glutaryllysine; alternate
839 – 844
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
Haeberle J.; Schmidt E.; Pauli S.; Rapp B.; Christensen E.; Wermuth B.; Koch H.G.;
Hum. Mutat. 21:444-444(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT CPS1D SER-843; VARIANT GLU-875;
Genetic approach to prenatal diagnosis in urea cycle defects.
Haeberle J.; Koch H.G.;
Prenat. Diagn. 24:378-383(2004)
Cited for: VARIANT CPS1D SER-843; VARIANT GLU-875;
Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.
Diez-Fernandez C.; Hu L.; Cervera J.; Haeberle J.; Rubio V.;
Mol. Genet. Metab. 112:123-132(2014)
Cited for: VARIANTS CPS1D ARG-401; ARG-632; SER-843; CYS-850; HIS-850; PRO-871; VAL-911; GLU-911; LEU-913; HIS-914; GLY-914; PRO-918; THR-932; ASN-937; THR-949; PRO-958; CYS-959; CYS-962; ASP-964; ASP-1194 AND ARG-1462; VARIANT GLU-875; CHARACTERIZATION OF VARIANTS CPS1D SER-843; CYS-850; HIS-850; PRO-871; VAL-911; GLU-911; LEU-913; HIS-914; GLY-914; PRO-918; THR-932; ASN-937; THR-949; PRO-958; CYS-959; CYS-962 AND ASP-964; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT GLU-875;
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.