c.3811C>T (p.Arg1271X)
Variant ID Exon
60 Exon 31
RNA effect EPP Control frequency Controls origin
RNA stability 3 0/94 Central Europe, Middle East, East Asia and US
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
COR004a COR004 female 17 y Italy CORS yes no Exon 31 3811C>T R1271X DHPLC Exon 42 5734delT R1911fsX1922 DHPLC
COR004b COR004 male 7 y Italy CORS yes no Exon 31 3811C>T R1271X DHPLC Exon 42 5734delT R1911fsX1922 DHPLC
A372 II-1 A372   Italy CORS yes no Exon 32 C3811T R1271X DHPLC Exon 43 5734delT W1912fsX1923 DHPLC
A372 II-2 A372   Italy CORS yes no Exon 32 C3811T R1271X DHPLC Exon 43 5734delT W1912fsX1923 DHPLC
5 S5   LCA unknown unknown Exon 31 CGA>TGA Arg1271STOP Direct sequencing (Sanger)