Table 7.

GBA1 Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein Change
(Alias 1, 2)		Comment [Reference]
NM_001005741​.3
NP_001005741​.1 		c.84dupG 3
(84GG; 84-85insG)		p.Leu29AlafsTer18Common variant in Ashkenazi Jewish persons w/type 1 GD 4
NM_001005741​.3 c.115+1G>A 3
(IVS2+1G>A)		--
NM_001005741​.3
NP_001005741​.1 		c.254G>Ap.Gly85Glu
(Gly46Glu)		See Genotype-Phenotype Correlations.
c.476G>Ap.Arg159Gln
(Arg120Gln)
c.475C>Tp.Arg159Trp
(Arg120Trp)
c.509G>Tp.Arg170Leu
(Arg131Leu)
c.680A>Gp.Asn227Ser
(Asn188Ser)
c.703T>Cp.Ser235Pro
(Ser196Pro)
c.754T>Ap.Phe252Ile
(Phe213Ile)
c.882T>Gp.His294Gln
(His255Gln)		See Genotype-Phenotype Correlations.
c.887G>Ap.Arg296Gln
(Arg257Gln)
c.1093G>Ap.Glu365Lys
(Glu326Lys)
c.1226A>Gp.Asn409Ser
(Asn370Ser)		Accounts for 61% of pathogenic variants in Ashkenazi Jewish persons, 4 63% of Portuguese persons, & 46% of Spanish persons [Giraldo et al 2000, Alfonso et al 2007]
c.1246G>Ap.Gly416Ser
(Gly377Ser)		See Genotype-Phenotype Correlations.
c.1297G>Tp.Val433Leu
(Val394Leu)
c.1342G>Cp.Asp448His
(Asp409His)
c.1448T>Cp.Leu483Pro
(Leu444Pro)
  • Common variant in Ashkenazi Jewish persons w/type 1 GD 4
  • Accounts for 41% of pathogenic variants among Japanese persons & 54% of Chinese persons w/GD [Wan et al 2006]
c.1604G>Ap.Arg535His
(Arg486His)		See Genotype-Phenotype Correlations.
NG_009783​.1 (Complex allele involving several changes at a specific location) 5(RecNciI) 5Accounts for 25% of pathogenic variants in Chinese persons w/GD [Wan et al 2006]

GD = Gaucher disease

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.

1.

Variant designation that does not conform to current naming conventions

2.

In the common variant names, amino acid number 1 is the first residue (Ala) of the mature protein. In contrast, the standard naming convention designates amino acid number 1 as the first residue (Met) of the signal sequence.

3.

Variants in the signal sequence

4.

The variants p.Asn409Ser, c.84dupG, c.115+1G>A, and p.Leu483Pro account for 90% of pathogenic variants in Ashkenazi Jewish individuals with type 1 GD and 50%-60% of pathogenic variants in non-Ashkenazi Jewish individuals with type 1 GD.

5.

Recombinant allele derived from a recombination between functional GBA1 and pseudogene GBAP1; see also Table 3 [Eyal et al 1990, Tayebi et al 2003].

From: Gaucher Disease

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