Skip to main content

Advertisement

Table 3 Reported Mutations in ASAH1 that result in FD

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.66G > C Missense Exon 1 p.Q22H NI NI 1 [195]
c.67C > G Missense Exon 1 p.H23D NI NI 1 [195]
c.92G > T Missense Exon 2 p.C31F Homoallelic NI 2 [49, 115]
c.107A > G Missense Exon 2 p.Y36C Homoallelic & Heteroallelic NI 4 [49, 196]
c.126-3941_382 + 1358del Deletion Exon 3–5 p.Y42Rfs*10 Heteroallelic undetectable 1 [197]
c.174_175InsC Insertion Exon 3 p. E64* Heteroallelic NI 1 [169]
c.212C > A Missense Exon 3 p.P71Q Heteroallelic NI 1 [198]
c.256_257insA Insertion Exon 4 p.T86Nfs*13 Heteroallelic NI 1 [17]
c.290_292delTGG Deletion Exon 4 p.V96del Homoallelic 37% 1 [199]
c.290 T > A Missense Exon 4 p.V97E Heteroallelic 35% 1 [199]
c.290 T > G Missense Exon 4 p.V97G Homoallelic NI 2 [120]
c.314 T > C Missense Exon 4 p.L105P Heteroallelic NI 1 [17]
c.383-16_383-12delTTTTC Deletion Intron 5 Heteroallelic NI 1 [131]
c.372 T > A Missense Exon 6 p.D124E Heteroallelic NI 1 [198]
c.408 T > A Missense Exon 6 p.F136L Heteroallelic NI 1 [131]
c.412G > T Deletion Exon 6 p.E139* Heteroallelic NI 1 [169, 196]
c.410A > G Missense Exon 6 p.Y137C Homoallelic NI 1 [49]
c.410_411delAT Deletion Exon 6 p.Y137* Heteroallelic NI 2 [114, 169]
c.413A > T Missense Exon 6 p.E138V Homoallelic & Heteroallelic < 5% 5 [41, 50, 169, 196]
c.457 + 4A > G Splicing Intron 6 Homoallelic NI 2 [121, 131]
c.502G > T Missense Exon 7 p.G168W Homoallelic undetectable 1 [126]
c.505 T > C Missense Exon 8 p.W169R Homoallelic & Heteroallelic < 10% 7 [49, 53, 93, 131]
c.538G > A Missense Exon 8 p.E180K Heteroallelic NI 1 [131]
c.544C > G Missense Exon 8 p.L182V Homoallelic NI 4 [107, 131]
c.593 T > C Missense Exon 8 p.V198A Heteroallelic NI 1 [131]
c.626G > A Missense Exon 8 p.G209D Heteroallelic NI 1 [169]
c.665C > A Missense Exon 9 p.T222K Homoallelic < 5% 1 [6, 196]
c.677G > C Missense Exon 9 p.R226P Heteroallelic NI 1 [131]
c.703G > C Missense Exon 9 p.G235A Homoallelic & Heteroallelic 2% 3 [131, 199]
c.704G > A Missense Exon 9 p.G235D Heteroallelic NI 1 [114]
c.704-2A > G Splicing Exon 9 Homoallelic NI 1 [49]
c.760A > G Missense Exon 10 p.R254G Homoallelic & Heteroallelic < 10% 4 [41, 54, 93, 169, 198]
c.770 T > C Missense Exon 10 p.L257P Homoallelic NI 1 [55]
c.833C > T Missense Exon 11 p.P278L Homoallelic NI 2 [8, 169]
c.917 + 4A > G Splicing Intron 11 Heteroallelic NI 1 [197]
c.917 + 5G > A Splicing Intron 11 Homoallelic NI 1 [169]
c.958A > G Missense Exon 12 p.N320D Homoallelic < 15% 1 [196]
c.959A > G Missense Exon 12 p.N320S Homoallelic NI 1 [131]
c.991G > A Missense Exon 12 p.D331N Heteroallelic NI 1 [169, 196]
c.997C > T Missense Exon 12 p.P333C Homoallelic & Heteroallelic NI 3 [49, 92]
c.997C > G Missense Exon 12 p.P333G Heteroallelic NI 4 [49, 131]
c.998G > A Missense Exon 12 p.P333H Homoallelic NI 1 [131]
c.1085C > G Missense Exon 13 p.P362R Homoallelic < 5% 2 [41]
c.1084C > A Missense Exon 13 p.P362T Heteroallelic NI 1 [131]
c.1096A > C Missense Exon 13 p.K366Q Heteroallelic NI 2 [49, 53]
c.1105G > A Missense Exon 13 p.V369I Heteroallelic NI 1 [199]
c.1098 + 1G > T Splicing Intron 13 p.N348_K366del Heteroallelic NI 1 [196]
c.1175A > G Missense Exon 14 p.R254G Heteroallelic NI 1 [169]
c.1186_1187insT Insertion Exon 14 p.*396L NI NI 1 [195]
  1. List of ASAH1 mutations reported in the literature that result in FD. 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