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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31327: Variant p.Asn1241Lys

Carbamoyl-phosphate synthase [ammonia], mitochondrial
Gene: CPS1
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Variant information Variant position: help 1241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Asparagine (N) to Lysine (K) at position 1241 (N1241K, p.Asn1241Lys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CPS1D. Any additional useful information about the variant.


Sequence information Variant position: help 1241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1500 The length of the canonical sequence.
Location on the sequence: help EKVKDATRKIAKAFAISGPF N VQFLVKGNDVLVIECNLRAS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRAS

Mouse                         EKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRAS

Rat                           EKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRAS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 39 – 1500 Carbamoyl-phosphate synthase [ammonia], mitochondrial
Domain 1093 – 1284 ATP-grasp 2
Modified residue 1222 – 1222 N6-acetyllysine
Modified residue 1224 – 1224 N6-glutaryllysine
Modified residue 1232 – 1232 N6-acetyllysine; alternate
Modified residue 1232 – 1232 N6-succinyllysine; alternate
Beta strand 1238 – 1247



Literature citations
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Kurokawa K.; Yorifuji T.; Kawai M.; Momoi T.; Nagasaka H.; Takayanagi M.; Kobayashi K.; Yoshino M.; Kosho T.; Adachi M.; Otsuka H.; Yamamoto S.; Murata T.; Suenaga A.; Ishii T.; Terada K.; Shimura N.; Kiwaki K.; Shintaku H.; Yamakawa M.; Nakabayashi H.; Wakutani Y.; Nakahata T.;
J. Hum. Genet. 52:349-354(2007)
Cited for: VARIANTS CPS1D GLU-79; ASN-212; ASN-280; PRO-438; HIS-587; ARG-593; LYS-651; ILE-674; HIS-780; CYS-850; ASP-982; ARG-1103; GLY-1141; PRO-1195; VAL-1215 AND LYS-1241;
Disclaimer: 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.