Table 2

MPS I mutations in Tunisian patients

Mutations

Nucleiotide change

Base (cDNA)a

Exon

Codon

Predicted protein change


p.F177S

p.L530fs

p.P533R

p.Y581X

T > C

1587_1588insGC

C > G

C > G

530

1587

1598

1743

5

11

11

13

177

530

533

581

Phenylalanine to serine

Frame- shift, premature stop

Proline to Arginine

Tyrosine to stop


a c DNA sequence from NCBI (IDUA NM-000203) with+1 being the A of the ATG initiation codon (n88).

Chkioua et al. Diagnostic Pathology 2011 6:47   doi:10.1186/1746-1596-6-47

Open Data