(p.Glu1903X)
Variant ID Exon OMIM ID
36 Exon 41
Domains RNA effect Control frequency Controls origin
CC XII unknown 0/96 - 0/184 ethnially matched - European-descended
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This mutation occurred in a BBS patient with a complex allele in TMEM67/MKS3 (p.[Gly218Ala; Ser320Cys]). Zebrafish experiments showed strong interaction between CEP290 and TMEM67/MKS3, supporting a potential influence of this complex allele on the CEP290-related phenotype (Leitch et al.).
  CEP290 Additional gene 1
Patient information Allele 1 Allele 2   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 Gene Nucleotide nomencl. Protein nomencl. Detection method Nucleotide nomencl. Protein nomencl. Detection method
04 KK51 female 11 y Saudi Arabia BBS yes yes first cousins Exon 41 E1903X Direct sequencing (Sanger) Exon 41 E1903X Direct sequencing (Sanger) NM_153704 p.[G218A; S320C] Direct sequencing (Sanger)