c.5668G>T (p.Gly1890X)
Variant ID Exon OMIM ID
2 Exon 41
Domains RNA effect Control frequency Controls origin
KID II,  CC XII RNA stability 0/150 - 0/>95 Italy and Asia - not mentioned
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
So far, this mutation represents the second-most common mutation in CEP290 (the most frequent being c.2991+1655A>G).
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
COR51 II:1 COR51 male 17 y Turkey CORS yes yes Exon 41 5668G>T G1890X Direct sequencing (Sanger) Exon 41 5668G>T G1890X Direct sequencing (Sanger)
COR51 II:2 COR51 male 15 y Turkey CORS yes yes Exon 41 5668G>T G1890X Direct sequencing (Sanger) Exon 41 5668G>T G1890X Direct sequencing (Sanger)
F63 II-1 F63   Germany CORS yes no Exon 41 G5668T G1890X Direct sequencing (Sanger) Exon 36 4656delA K1552fsX1556 Direct sequencing (Sanger)
F700 III-4 F700   Turkey CORS yes yes Exon 42 G5668T G1890X Direct sequencing (Sanger) Exon 42 G5668T G1890X Direct sequencing (Sanger)
F700 III-6 F700   Turkey CORS yes yes Exon 42 G5668T G1890X Direct sequencing (Sanger) Exon 42 G5668T G1890X Direct sequencing (Sanger)
F944 III-1 F944   Turkey JS + kidney yes yes Exon 42 G5668T G1890X Direct sequencing (Sanger) Exon 42 G5668T G1890X Direct sequencing (Sanger)
F944 III-2 F944   Turkey JS + kidney yes yes Exon 42 G5668T G1890X Direct sequencing (Sanger) Exon 42 G5668T G1890X Direct sequencing (Sanger)
COR003 female 6 y Italy CORS unknown no Exon 41 5668G>T G1890X DHPLC
MTI154 female 6 y India CORS unknown no Exon 41 5668G>T G1890X DHPLC Exon 41 5668G>T G1890X DHPLC
COR125 female 10 y United Kingdom CORS unknown no Exon 41 5668G>T G1890X DHPLC Exon 40 5431_5433delGA N1810fsX1816 DHPLC
MTI118 female 12 y Ireland CORS unknown no Exon 41 5668G>T G1890X DHPLC Exon 28 3167_3175insA I1055fsX1069 DHPLC
MTI012 male 8 y United Arab Emirates JS unknown yes Exon 41 5668G>T G1890X DHPLC Exon 41 5668G>T G1890X DHPLC
MTI587 male 5 y United Arab Emirates JS + kidney unknown yes Exon 41 5668G>T G1890X DHPLC Exon 41 5668G>T G1890X DHPLC
P4 sibs male 17 y LCA unknown unknown Exon 41 c.5668G>T p.G1890X Intron 26 c.2991+1655A>G Splice defect
P5 sibs female 19 y LCA unknown unknown Exon 41 c.5668G>T p.G1890X Intron 26 c.2991+1655A>G Splice defect