Table 7. Selected GAMT Pathogenic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.59G>Cp.Trp20SerNM_000156​.4
NP_000147​.1
c.327G>A 1 See footnote 1
c.297_309dup13p.Arg105GlyfsTer26

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​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. The mutation c.327G>A changes the last nucleotide of the splice donor site of exon 2. Although no amino acid change is predicted, experimental analysis demonstrated that this one base substitution affects RNA-processing and yields two abnormal transcripts, one from skipping of exon 2 and the other from use of a cryptic splice site in intron 2 [Stöckler et al 1996].

From: Creatine Deficiency Syndromes

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