c.4723A>T (p.Lys1575X)
Variant ID Exon OMIM ID
35 Exon 36
Domains RNA effect EPP
CC XI RNA stability 3
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).

Perrault and colleagues performed haplotype analysis for this mutation using 4 microsatellite markers (3 flanking and 1 intragenic) in 7 non-consanguineous families segregating this mutation. Although all patients displayed the same intragenic allele, none of the extragenic markers was observed to be in complete linkage disequilibrium with this mutation, suggesting an ancient mutation (Perrault 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
623   8 y France JS + retina unknown no Exon 36 c.4723A>T p.Lys1575X DHPLC Exon 36 c.4723A>T p.Lys1575X DHPLC
738   56 y France LCA unknown no Exon 36 c.4723A>T p.Lys1575X DHPLC Exon 36 c.4723A>T p.Lys1575X DHPLC
848   1 y 6 m France LCA unknown no Exon 36 c.4723A>T p.Lys1575X DHPLC Exon 36 c.4723A>T p.Lys1575X DHPLC
809   2 y France LCA unknown no Exon 36 c.4723A>T p.Lys1575X DHPLC Exon 17 c.1709C>G p.Ser570X DHPLC
258   15 y France LCA unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger)
419   8 y France LCA unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger)
LEP   24 y France LCA unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger)
COR031 female 15 y Belgium CORS unknown yes Exon 36 4723A>T K1575X DHPLC Exon 34 4393C>T R1465X DHPLC
7 S7   LCA unknown unknown Exon 36 AAG>TAG Lys1575STOP Direct sequencing (Sanger)
LCA-6 LCA-6 female Belgium LCA yes no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)  
LCA-7 LCA-7 male Belgium LCA unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)  
LCA-8 LCA-8 female Belgium LCA unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)  
LCA-24 LCA-24 male Belgium LCA unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger)  
LCA-25 LCA-25 male Belgium LCA yes no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 35 c.4696G>C p.Ala1566Pro Direct sequencing (Sanger)  
SLS-3 SLS-3 male Belgium SLS unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 34 c.4393C>T p.Arg1465X Direct sequencing (Sanger)  
SLS-2 SLS-2 female Belgium SLS unknown no Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger) Exon 34 c.4393C>T p.Arg1465X Direct sequencing (Sanger)