Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 412 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 KKALKLGAKKVFIEDVSREF VEEFIWPAIQSSALYEDRYLL
Mouse KKALKLGAKKVFIEDVSKEF VEEFIWPAVQSSALYEDRYLL
Rat KKALKLGAKKVFIEDVSKEF VEEFIWPAVQSSALYEDRYLL
Bovine KKALKLGAKKVFIEDISKEF VEEFIWPAIQSSALYEDRYLL
Chicken KKALALGAKKVYIQDVCREF VEDFIWPAVRANALYEDRYML
Xenopus laevis KKAVNLGAKKVYIEDIRQQF VEEYIWPAVQANAIYEDRYLL
Xenopus tropicalis KKAVNLGAKKVYIEDMRQQF VEEYIWPAVQANAIYEDRYLL
Zebrafish KKAEKLGAKKVFIEDLRSEF VQEFIWPALQANALYEDRYLL
Drosophila KKALKIGAKKVIVADVKQSF VEDYIWPAVQMGLVYEERYLL
Baker's yeast EKALKIGACKFVCVDCREDF VKDILFPAVQVNAVYEDVYLL
Fission yeast EKALKVGAKKVYVEDLREEF INDTVIPAAQANAIYENVYLL
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
1 – 412 Argininosuccinate synthase
87 – 87 Citrulline
87 – 87 Phosphotyrosine
65 – 71
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;
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