Variant position: 457 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 QAGEFDYSGSQAVKAMKEEN VKTVLMNPNIASVQTNEVGLK
Mouse QAGEFDYSGSQAVKAMKEEN VKTVLMNPNIASVQTNEVGLK
Rat QAGEFDYSGSQAVKAMKEEN VKTVLMNPNIASVQTNEVGLK
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
453 – 453 N6-acetyllysine; alternate
453 – 453 N6-glutaryllysine; alternate
458 – 458 N6-acetyllysine; alternate
458 – 458 N6-glutaryllysine; alternate
458 – 458 N6-succinyllysine; alternate
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Funghini S.; Donati M.A.; Pasquini E.; Zammarchi E.; Morrone A.;
Hum. Mutat. 22:340-341(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS CPS1D GLY-457 AND ARG-810; VARIANT ASN-1406;
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