Table 6.

ARSA Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein Change
(Alias 1)		Comment [Reference]
NM_000487​.6 c.*96A>G 2
(1524+96A>G)		--

ARSA-PD allele 2

c.465+1G>A
(459+1G>A)		--
  • Pathogenic variant (ARSA-MLD) typically assoc w/late-infantile onset (See Genotype-Phenotype Correlations.)
  • Common variant in persons of central & western European ancestry.
NM_000487​.6
NP_000478​.3 		c.542T>G
(536T>G)		p.Ile181Ser
(Ile179Ser)
  • Pathogenic variant (ARSA-MLD) typically assoc w/juvenile-or adult-onset (See Genotype-Phenotype Correlations.)
  • Common variant in persons of central & western European ancestry
c.769G>C
(763G>C)		p.Asp257His
(Asp255His)		Pathogenic variant (ARSA-MLD) typically assoc w/late-infantile onset (See Genotype-Phenotype Correlations.)
NM_000487​.6 c.854+1G>A--Pathogenic (ARSA-MLD) founder variant in Yup'ik population of Alakanuk, AK, & Navajo population [Pastor-Soler et al 1994, Pastor-Soler et al 1995]
NM_000487​.6
NP_000478​.3 		c.1055A>G 2
(1049A>G)		p.Asn352Ser
(Asn350Ser)
  • ARSA-PD allele
  • Glycosylation site alteration
  • Common benign variant occurring in 15%-40% of persons. 2
c.1136C>Tp.Pro379LeuPathogenic (ARSA-MLD) founder variant in Habbanite & Yemenite Jewish populations [Zlotogora 2015]
NM_000487​.6 c.1210+1G>A
(1204+1G>A)		--
  • Pathogenic variant (ARSA-MLD) typically assoc w/late-infantile onset (See Genotype-Phenotype Correlations.)
  • Common variant in persons of central & western European ancestry
NM_000487​.6
NP_000478​.3 		c.1283C>T
(1277C>T)		p.Pro428Leu
(Pro426Leu)
  • Pathogenic variant (ARSA-MLD) typically assoc w/juvenile-or adult-onset (See Genotype-Phenotype Correlations.)
  • Common variant in persons of central & western European ancestry

AK = Alaska; MLD = metachromatic leukodystrophy; PD = pseudodeficiency

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.

The most common ARSA-PD allele in the European and North American populations has two sequence variants in cis configuration, designated as c.[1055A>G;*96A>G].

From: Arylsulfatase A Deficiency

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