Table 8.

Notable SLC25A15 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_014252​.3
NP_055067​.1 		c.562_564delTTCp.Phe188delFrench-Canadian founder variant. Residual activity in functional biochemical studies. No function in cellular ornithine transport studies. Found in 29% of persons w/mutation analysis [Camacho et al 1999, Fiermonte et al 2003, Debray et al 2008].
c.535C>Tp.Arg179TerCommon variant in persons of Japanese & Middle Eastern ancestry. Found in 14% of persons w/mutation analysis. Completely nonfunctional [Fiermonte et al 2003, Martinelli et al 2015].
c.95C>Gp.Thr32ArgFound in 2 related Mexican families (5 persons). Has residual function in cellular transport assay. Assoc w/late-onset disease & phenotypic variability [Camacho et al 2006]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants. GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

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