c.5493del (p.Ala1832ProfsX19)
Variant ID Exon OMIM ID
69 Exon 40
Domains RNA effect Control frequency Controls origin
CC XII RNA stability 0/100 Caucasian
The mRNA produced might be targeted for nonsense mediated decay (NMD).

This deletion creates a frame shift starting at codon Ala1832. The new reading frame ends in a STOP codon 18 positions downstream.

Frank and colleagues suggested a founder effect for this mutation, since they identified a common haplotype encompassing approximately 3Mb in two different families (Frank 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
COR001 female 20 y Italy CORS unknown no Exon 40 5489_5493delA K1829fsX1850 DHPLC
23 Kosovo-Albanian multiplex family male 22 w (g) MKS yes yes fifth degree Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger) Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger)
24 Kosovo-Albanian multiplex family male 20 w (g) Albania, Kosovo, Republic Of MKS yes yes fifth degree Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger) Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger)
F972 2 F972 female 19 w (g) Kosovo, Republic Of MKS yes yes distantly related Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger) Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger)
F972 1 F972 male 23 w (g) Kosovo, Republic Of MKS yes yes distantly related Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger) Exon 40 c.5489delA p.Gln1830fs Direct sequencing (Sanger)
LCA-16 LCA-16 male Belgium; Greece LCA yes no Exon 40 c.5493del p.Ala1832ProfsX19 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)