+/+ |
Unknown |
05 |
c.411+1G>A |
- |
p.Gly120Trpfs |
- |
RPS19_00077 |
Intron 5 |
Donor splice site defect; exon 5 deletion |
transition |
Reduces RPS19 mRNA levels |
Reduced to 60% of controls (wt 50%-mutant 10%) in lymphoblastoid cell lines [1]. Nonstop decay of mRNA with skipped exon 5. More than one aberrantly spliced mRNA could be present. |
- |
- |
- |
- |
- |
translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and non stop decay |
[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33 |