Table 3.

Notable ADA2 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_001282225​.1
NP_001269154​.1 		c.139G>Ap.Gly47ArgFounder variant in Israeli, Georgian-Jewish, & Turkish populations [Hashem et al 2017b]
c.140G>Cp.Gly47AlaFound in multiple populations
c.506G>Ap.Arg169GlnFounder variant in persons of Finnish or Dutch ancestry [Van Montfrans et al 2016]
c.752C>Tp.Pro251LeuLow ADA2 activity w/variable expressivity of clinical features [Nanthapisal et al 2016]
c.1078A>Gp.Thr360AlaFound more commonly in persons of Italian ancestry [Caorsi et al 2017]
c.1358A>Gp.Tyr453CysMost common pan ethnic variant [Hashem et al 2017b]
c.973-2A>GAberrant mRNA splicingFound in multiple populations

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: Adenosine Deaminase 2 Deficiency

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