Skip to main content

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