Five of these were caused by mutations predicted to produce a truncated protein : ( i ) a sporadic case showed a 32 bp deletion in exon 11 , and a mutant mRNA without exon 11 was produced ; the normal exon 10 was also spliced out ; ( ii ) a sporadic case had a 1 bp deletion in exon 12 ( 1634delT ) ; ( iii ) a TSC2 -linked mother and daughter pair had a G-->T transversion in exon 23 ( G2715T ) introducing a cryptic splice site causing a 29 bp truncation of mRNA from exon 23 ; ( iv ) a sporadic case showed a 2 bp deletion in exon 36 ; ( v ) a sporadic case showed a 1 bp insertion disrupting the donor splice site of exon 37 ( 5007+2insA ) , resulting in the use of an upstream exonic cryptic splice site to cause a 29 bp truncation of mRNA from exon 37 .
five of these were caused by mutations predicted to produce a truncated protein : ( i ) a sporadic case showed a 32 bp deletion in exon 11 , and a mutant mrna without exon 11 was produced ; the normal exon 10 was also spliced out ; ( ii ) a sporadic case had a 1 bp deletion in exon 12 ( 1634delt ) ; ( iii ) a tsc2 -linked mother and daughter pair had a g-->t transversion in exon 23 ( g2715t ) introducing a cryptic splice site causing a 29 bp truncation of mrna from exon 23 ; ( iv ) a sporadic case showed a 2 bp deletion in exon 36 ; ( v ) a sporadic case showed a 1 bp insertion disrupting the donor splice site of exon 37 ( 5007+2insa ) , resulting in the use of an upstream exonic cryptic splice site to cause a 29 bp truncation of mrna from exon 37 .
O O O O O O O O O O O B-protein_family_or_group I-protein_family_or_group O O O O O O O O O B-DNA_domain_or_region I-DNA_domain_or_region I-DNA_domain_or_region O B-RNA_domain_or_region I-RNA_domain_or_region O O O B-RNA_molecule I-RNA_molecule O B-RNA_domain_or_region I-RNA_domain_or_region O O O O O O O O O O O O O O O O O O O O B-DNA_domain_or_region I-DNA_domain_or_region I-DNA_domain_or_region O B-RNA_domain_or_region I-RNA_domain_or_region O B-RNA_domain_or_region O O O O O O B-DNA_domain_or_region O O O O O O O O B-other_name O B-RNA_domain_or_region I-RNA_domain_or_region O B-RNA_domain_or_region O O O O O O O O O O O O O O B-RNA_domain_or_region I-RNA_domain_or_region O O O O O O O O O B-DNA_domain_or_region I-DNA_domain_or_region I-DNA_domain_or_region O B-RNA_domain_or_region I-RNA_domain_or_region O O O O O O O O O B-DNA_domain_or_region I-DNA_domain_or_region I-DNA_domain_or_region O O O O O O B-RNA_domain_or_region I-RNA_domain_or_region O B-RNA_domain_or_region O O O O O O O O B-RNA_domain_or_region I-RNA_domain_or_region I-RNA_domain_or_region I-RNA_domain_or_region I-RNA_domain_or_region O O O B-RNA_domain_or_region I-RNA_domain_or_region I-RNA_domain_or_region O B-RNA_family_or_group O B-RNA_domain_or_region I-RNA_domain_or_region O