c.384_387del (p.Asp128GlufsX34)
Variant ID Exon OMIM ID
51 Exon 6
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).

This deletion creates a frame shift starting at codon Asp128. The new reading frame ends in a STOP codon 33 positions downstream.

Baala and colleagues suggested that this mutation might be a recurrent mutation rather than a founder effect, since they found different haplotypes of microsatellites in two different families (Tunisian and French) (Baala et al.).

Patient information Allele 1 Allele 2  
Patient ID Family ID Gender Age Origin Disease Segregation Parental consanguinity Consanguinity degree Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Reference
513   5 m United Kingdom LCA unknown unknown Exon 6 c.384-387delTAGA p.Asp128GlufsX33 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)
2607 3   18 w (g) Tunisia MKS yes unknown Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger) Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger)
3501 3   20 w (g) Tunisia MKS yes unknown Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger) Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger)
304 4   19 w (g) France, Tunisia MKS yes unknown Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger) Exon 3 c.180+2 T>A Splice Direct sequencing (Sanger)
303 4   16 w (g) MKS yes unknown Exon 6 c.384_387delTAGA p.Asp128GlufsX34 Direct sequencing (Sanger) Exon 3 c.180+2 T>A Splice Direct sequencing (Sanger)