Table 6. [ASPA Pathogenic Variants Referenced in This GeneReview]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment
NM_000049.2 NP_000040.1	c.212G>A	p.Arg71His	Pathogenic variants resulting in relatively higher residual aspartoacylase activity & assoc w/atypical Canavan disease (See Genotype-Phenotype Correlations.)
c.610G>C	p.Asp204His
c.693C>A	p.Tyr231Ter	Founder variant in Ashkenazi Jewish population resulting in complete loss of aspartoacylase activity & assoc w/typical Canavan disease (See Genotype-Phenotype Correlations.)
c.770C>G	p.Pro257Arg	Pathogenic variant resulting in relatively higher residual aspartoacylase activity & assoc w/atypical Canavan disease (See Genotype-Phenotype Correlations.)
c.854A>C	p.Glu285Ala	Founder variant in Ashkenazi Jewish population resulting in complete loss of aspartoacylase activity & assoc w/typical Canavan disease (See Genotype-Phenotype Correlations.)
c.863A>G	p.Tyr288Cys	Pathogenic variant resulting in relatively higher residual aspartoacylase activity & assoc w/atypical Canavan disease (See Genotype-Phenotype Correlations.)
c.914C>A	p.Ala305Glu	Common variant in Europeans of non-Ashkenazi Jewish ancestry resulting in complete loss of aspartoacylase activity; can be assoc w/either atypical or typical Canavan disease (See Genotype-Phenotype Correlations.)

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment

c.212G>A

p.Arg71His

Pathogenic variants resulting in relatively higher residual aspartoacylase activity & assoc w/atypical Canavan disease (See Genotype-Phenotype Correlations.)

c.610G>C

p.Asp204His

c.693C>A

p.Tyr231Ter

Founder variant in Ashkenazi Jewish population resulting in complete loss of aspartoacylase activity & assoc w/typical Canavan disease (See Genotype-Phenotype Correlations.)

c.770C>G

p.Pro257Arg

Pathogenic variant resulting in relatively higher residual aspartoacylase activity & assoc w/atypical Canavan disease (See Genotype-Phenotype Correlations.)

c.854A>C

p.Glu285Ala

Founder variant in Ashkenazi Jewish population resulting in complete loss of aspartoacylase activity & assoc w/typical Canavan disease (See Genotype-Phenotype Correlations.)

c.863A>G

p.Tyr288Cys

Pathogenic variant resulting in relatively higher residual aspartoacylase activity & assoc w/atypical Canavan disease (See Genotype-Phenotype Correlations.)

c.914C>A

p.Ala305Glu

Common variant in Europeans of non-Ashkenazi Jewish ancestry resulting in complete loss of aspartoacylase activity; can be assoc w/either atypical or typical Canavan disease (See Genotype-Phenotype Correlations.)

From: Canavan Disease

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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