splice donor sites การใช้
- Among three alternative splice donor sites ( GU1 to GU3; Fig . 4C ), GU2 is the only site that forms the mature mRNA to produce the functional, full-length 5-HT2CR protein.
- Additionally, a splice mutation in the intron 7 splice donor site ( c . 471 + 2T?! A ) of " NAA10 " was reported in a single family with Lenz microphthalmia syndrome ( LMS ), a very rare, genetically heterogeneous X-linked recessive disorder characterized by microphthalmia or anophthalmia, developmental delay, intellectual disability, skeletal abnormalities and malformations of teeth, fingers and toes.