Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

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).

ISSN: 1746-1596