Table 3.
Protein | cDNA | System | Expression level | Reference |
---|---|---|---|---|
p.I138d1 | c.413del1 | in vitro | overexpressed | Nichols et al. (2010) |
p.I138d1 | c.413del1 | Drosophila in vivo rescue | overexpressed | Terrell et al. (2012) |
p.K88N | c.264G>T | in vitro | normal | Nichols et al. (2010) |
p.K88N | c.264G>T | Drosophila in vivo rescue | normal | Terrell et al. (2012) |
p.E80A | c.239A>C | Drosophila in vivo rescue | normal | Terrell et al. (2012) |
p.R90W | c.268C>T | Drosophila in vivo rescue | reduced | Terrell et al. (2012) |