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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00966: Variant p.Arg108Leu

Argininosuccinate synthase
Gene: ASS1
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Variant information Variant position: help 108 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 Arginine (R) to Leucine (L) at position 108 (R108L, p.Arg108Leu). 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 large size and basic (R) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CTLN1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 108 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 412 The length of the canonical sequence.
Location on the sequence: help LLGTSLARPCIARKQVEIAQ R EGAKYVSHGATGKGNDQVRF 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                         LLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRF

Mouse                         LLGTSLARPCIARRQVEIAQREGAKYVSHGATGKGNDQVRF

Rat                           LLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRF

Bovine                        LLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQIRF

Chicken                       MLGSALARPCIARHLVLIAQEEGARYIAHGATGKGNDQVRF

Xenopus laevis                LLGTSLARPCIAKKQVEIAKKEAAEYVSHGATGKGNDQIRF

Xenopus tropicalis            LLGTSLARPCIAKKQVEIAKKEAAEYVSHGATGKGNDQIRF

Zebrafish                     LLGTSIARPCIARRQVQIAQREGAQYVSHGATGKGNDQVRF

Drosophila                    LLGTSLARPCISVALMEVAREYGAKYLAHGATGKGNDQVRF

Baker's yeast                 LLGTSLARPVIAKAQIDVAKQEGCFAVSHGCTGKGNDQIRF

Fission yeast                 LLGTSLARPIIARRQIQIAEKENCIAVSHGCTGKGNDQVRF
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 1 – 412 Argininosuccinate synthase
Binding site 92 – 92
Binding site 119 – 119
Binding site 123 – 123
Binding site 123 – 123
Binding site 124 – 124
Binding site 127 – 127
Modified residue 112 – 112 N6-acetyllysine
Modified residue 113 – 113 Phosphotyrosine
Helix 94 – 109



Literature citations
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Haeberle J.; Pauli S.; Linnebank M.; Kleijer W.J.; Bakker H.D.; Wanders R.J.A.; Harms E.; Koch H.G.;
Hum. Genet. 110:327-333(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CTLN1 LEU-108; ARG-179; VAL-362 AND ARG-390; Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
Vilaseca M.A.; Kobayashi K.; Briones P.; Lambruschini N.; Campistol J.; Tabata A.; Alomar A.; Rodes M.; Lluch M.; Saheki T.;
Mol. Genet. Metab. 74:396-398(2001)
Cited for: VARIANTS CTLN1 ALA-69; LEU-108; ASP-117; ILE-119; GLN-270 AND ARG-390;
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.