Variant position: 108 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 LLGTSLARPCIARKQVEIAQ REGAKYVSHGATGKGNDQVRF
Mouse LLGTSLARPCIARRQVEIAQ REGAKYVSHGATGKGNDQVRF
Rat LLGTSLARPCIARKQVEIAQ REGAKYVSHGATGKGNDQVRF
Bovine LLGTSLARPCIARKQVEIAQ REGAKYVSHGATGKGNDQIRF
Chicken MLGSALARPCIARHLVLIAQ EEGARYIAHGATGKGNDQVRF
Xenopus laevis LLGTSLARPCIAKKQVEIAK KEAAEYVSHGATGKGNDQIRF
Xenopus tropicalis LLGTSLARPCIAKKQVEIAK KEAAEYVSHGATGKGNDQIRF
Zebrafish LLGTSIARPCIARRQVQIAQ REGAQYVSHGATGKGNDQVRF
Drosophila LLGTSLARPCISVALMEVAR EYGAKYLAHGATGKGNDQVRF
Baker's yeast LLGTSLARPVIAKAQIDVAK QEGCFAVSHGCTGKGNDQIRF
Fission yeast LLGTSLARPIIARRQIQIAE KENCIAVSHGCTGKGNDQVRF
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.
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;
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.