Table 8.

Riboflavin Transporter Deficiency: Notable Pathogenic Variants by Gene

GeneReference SequencesDNA Nucleotide ChangePredicted
Protein Change		Comment [Reference]
SLC52A2 NM_024531​.4
NP_078807​.1 		c.916G>Ap.Gly306ArgFounder variant in the Lebanese population [Foley et al 2014, Srour et al 2014]
SLC52A3 NM_033409​.3
NP_212134​.3 		c.710C>Tp.Ala237ValVariant w/an unusual pattern of inheritance in 2 related persons of Indian ancestry [Gayathri et al 2021]
c.986A>Gp.Tyr329CysPreliminary data suggest that some persons heterozygous for this variant may manifest RTD in the absence of circumstances that cause riboflavin depletion, but this hypothesis requires further investigation [Khani et al 2021].

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: Riboflavin Transporter Deficiency

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