Table 17.

Notable GLB1 Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted
Protein Change		Comment [Reference]
NM_000404​.4
NP_000395​.3 		c.1577dupG 2
(1622_1627insG)		p.Trp527LeufsTer5High prevalence in Brazilian population; assoc w/GM1 infantile form [Baiotto et al 2011]
c.176G>Ap.Arg59HisHigh prevalence in Roma & Brazilian populations; assoc w/GM1 infantile & juvenile forms (reviewed in Baiotto et al [2011])
c.495_497delTCTp.Leu166delHigh prevalence in Chinese population; assoc w/GM1 infantile & late-infantile form [Feng et al 2018]
c.152T>Cp.Ile15ThrHigh prevalence in Japan; assoc w/GM1 adult form (reviewed in Feng et al [2018])
c.1343A>Tp.Asp448ValMost common pathogenic variant in persons of Korean ancestry w/late-infantile GM1 gangliosidosis; also documented in persons of Chinese & Turkish ancestry w/infantile GM1 gangliosidosis [Lee et al 2018]
c.817_818delTGinsCT
(851-852TG>CT)		p.Trp273LeuMost frequent variant in MPS IVB, located in highly conserved region of ligand-binding pocket; causes skeletal dysostosis w/o neurologic involvement [Yuskiv et al 2020].

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.

Duplication results in the addition of another G to a series of six G nucleotides.

From: GLB1-Related Disorders

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