c.4393C>T (p.Arg1465X)
Variant ID Exon
59 Exon 34
Domains RNA effect
CC X RNA stability
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
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
MTI125 female 6 y United States Of America CORS unknown no Exon 34 4393C>T R1465X DHPLC
MTI286 female 13 y Brazil CORS unknown no Exon 34 4393C>T R1465X DHPLC
COR031 female 15 y Belgium CORS unknown yes Exon 34 4393C>T R1465X DHPLC Exon 36 4723A>T K1575X DHPLC
LCA-5 LCA-5 male Belgium LCA unknown no Exon 34 c.4393C>T p.Arg1465X Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Direct sequencing (Sanger)  
SLS-3 SLS-3 male Belgium SLS unknown no Exon 34 c.4393C>T p.Arg1465X Direct sequencing (Sanger) Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger)  
SLS-2 SLS-2 female Belgium SLS unknown no Exon 34 c.4393C>T p.Arg1465X Direct sequencing (Sanger) Exon 36 c.4723A>T p.Lys1575X Direct sequencing (Sanger)