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Table 4 Reported Mutations in ASAH1 that result in SMA-PME

From: Acid ceramidase deficiency: Farber disease and SMA-PME

DNA Change Mutation type Locus Amino acid change Allelic status ACDase activity Number of cases Reference
c.77C > G Missense Exon 1 p.P26R Heteroallelic NI 1 [200]
c.124A > G Missense Exon 2 p.T42A Homoallelic & Heteroallelic < 10% 4 [43, 47, 49]
c.125C > T Missense Exon 2 p.T42M Homoallelic 32% 12 [36, 44,45,46, 153, 201]
c.125 + 1G > A Insertion Intron 2 Heteroallelic NI 2 [49, 200]
c.177C > G Nonsense Exon 3 p.Y59* Heteroallelic NI 1 [44]
c.223_224insC Insertion Exon 3 pV75Afs*6 Heteroallelic NI 1 [44]
c.410A > G Missense Exon 6 p.Y137C Heteroallelic NI 1 [48]
c.456A > C Missense Exon 6 p.K152N Heteroallelic < 20% 5 [44, 48, 49, 91]
c.518A > T Missense Exon 8 p.N173I Heteroallelic < 10% 1 [37]
c.536C > T Missense Exon 8 p.T179I Heteroallelic NI 3 [43, 49]
c.594_599dupCTTCAA Duplication Exon 8 F199_K200dup Heteroallelic < 10% 1 [37]
c.850G > T Nonsense Exon 11 p.G284X Heteroallelic < 10% 1 [145]
c.886C > T Missense Exon 11 p.R296X Heteroallelic < 20% 1 [91]
  1. List of ASAH1 mutations reported in the literature that result in SMA-PME. Only pathogenic mutations are included. The number of cases column indicates any case in which one allele carries a mutation. Patients with compound mutations that are pathogenic are listed twice. The listed residual enzyme activity is expressed as a percent of the normal control; NI not indicated