Table 7.

Notable FBP1 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_000507​.3 c.-24-26_170+5192 (deletion exon 2)--Observed in the homozygous state in affected persons in Armenia & Turkey [Santer et al 2016]
NM_000507​.3
NP_000498​.2 		c.472C>Tp.Arg158TrpFrequently observed in France, India, Pakistan, Saudi Arabia, & Brazil [Lebigot et al 2015, Ijaz et al 2017, Bhai et al 2018, Moey et al 2018, Pinheiro et al 2019]
c.611_614delAAAAp.Lys204ArgfsTer72Observed in India & Pakistan [Ijaz et al 2017, Bhai et al 2018]
c.685C>Tp.Glu229TerCommon in Morocco [Prahl et al 2006, Lebigot et al 2015]
c.841G>Ap.Glu281LysCommon in India, Pakistan, & Saudi Arabia [Afroze et al 2013, Santer et al 2016, Ijaz et al 2017, Bhai et al 2018]
c. 959dupGp.Ser321ValfsTer13Common in Japan; observed in China, Korea, & in North Americans & Europeans [Kikawa et al 1997, Herzog et al 2001, Takagi et al 2013, Lee et al 2019]

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: Fructose-1,6-Bisphosphatase Deficiency

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