Table 7. Selected GAMT Pathogenic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.327G>A 1 See footnote 1

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. 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

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2014.
Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

For more information, see the GeneReviews Copyright Notice and Usage Disclaimer.

For questions regarding permissions: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.