Table 4.

Notable GALNS Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_000512​.5
NP_000503​.1 		c.337A>Tp.Ile113PheBritish-Irish variant [Neufeld & Muenzer 2001]
NM_000512​.5 c.898+1G>C--Homozygotes have slowly progressive course [Tomatsu et al 2005].
NM_000512​.5
NP_000503​.1 		c.935C>Gp.Thr312SerBritish-Irish variant, mild phenotype [Neufeld & Muenzer 2001]
c.29G>Ap.Trp10TerSevere phenotype [Zanetti et al 2019]
c.178G>Ap.Asp60AsnMilder phenotype [Sawamoto et al 2020]
c.612C>Gp.Asn204LysMilder phenotype [Sawamoto et al 2020]
c.776G>Ap.Arg259GlnMilder phenotype [Sawamoto et al 2020]
c.1519T>Cp.Cys507ArgSevere phenotype [Zanetti et al 2019]
c.1520G>Tp.Cys507PheNo homozygotes described in the literature [Zanetti et al 2019]
c.1156C>Tp.Arg386CysThe most common pathogenic variant, accounting for 8.9% [Peracha et al 2018]

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: Mucopolysaccharidosis Type IVA

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