Notch3^em1Ecan

CRISPR/Cas9 technology introduced a tandem termination codon at bases 6691-6696 (ACCAAG to TAATGA) in exon 33 leading to a T2231X change and creating a truncated protein of 2230 amino acids versus 2318 in wild-type devoid of the PEST domain. This is a mutation identified in a patient with lateral meningocele syndrome. (J:270682)