Table 2.

Selected ASS1 Allelic Variants

DNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences
c.257G>Ap.Arg86His 2NM_000050​.4
c.323G>T 3p.Arg108Leu 3
c.535T>C 3p.Trp179Arg 2, 3
c.794G>Ap.Arg265His 2
c.970+5G>A 3
c.1085G>T 3p.Gly362Val 2, 3
c.1168G>A 3p.Gly390Arg

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​ See Quick Reference for an explanation of nomenclature.

1. Variant designation that does not conform to current naming conventions

2. Associated with late-onset citrullinemia type I; see Genotype-Phenotype Correlations.

3. Variants associated with no clinical or mild clinical symptoms; see Table A.

From: Citrullinemia Type I

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