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Table 8 Phenotype/genotype correlation of splicing, deletions and insertions mutations in IDUA gene

From: Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Mutation Phenotype prediction Mutation Phenotype prediction Mutation Phenotype prediction
134del12 severe c.1147dupG severe IVS4-1G > A intermediate, severe
153delC severe c.1166_1171dup severe IVS4 + 1G > A intermediate
229del3 severe c.1190-1delG severe IVS5-7G > A mild
252insC severe c.1225dupG severe IVS5 + 1G > A severe
c.349delT unknown c.1244-1271del27 severe IVS6 + 1G > C severe
396insAC milda 1251delC severe IVS6 + 1G > T severe
468del3 severe 1277ins9 severe IVS7-4G > A severe
486del6 unknown 1352delG severe IVS7 + 2 T > C unknown
c.574delT severe c.1398delC severe IVS8-1G > A severe
628del5 severe c.1589insGC severe IVS8 + 4G > A intermediate
c.657dupG severe c.1593delG intermediatea IVS8 + 5G > A intermediate, severe
668insGCG severe 1702delG severe IVS9 + 1G > T severe
682insAC severe 1783del11 severe IVS9 + 2 T > G unknown
702ins10del22 severe c.1805delTinsGAACA severe IVS11-G > T severe
704ins5 severe 1839del29 severe IVS11 + 5G > A severe
740delC severe 1902del2 severe IVS11 + 5G > C severe
747delG severe c.1918_1927del10 intermediatea 3308del12 intermediate
755del5 severe 1995del11 intermediatea IVS12 + 1G > A severe
c.826_828del3 severe D444/445 mild IVS12 + 2 T > G severe
c.854delC severe c.1-2C > G severe IVS12 + 2 T > A unknown
c.883dupC severe IVS2-1G > C severe IVS12 + 3G > C severe
c.956_972 + 9delinsTA severe IVS2-3C > G unknown IVS12 + 4C > T intermediate
964delC severe IVS2 + 1G > A intermediate IVS12 + 5G > A severe
974ins12 mild IVS2 + 6C > T severe IVS12 + 5G > C unknown
c.1045_1047del3 severe IVS3-2A > G severe IVS12 + 6 T > A severe
1132del6 severe IVS3 + 1G > A severe   
  1. awas added to predictions with relatively low reliability