Table 3.
Mutations Identified in OBSL1
| 3-M ID | Nucleotide Change | Protein Change |
|---|---|---|
| 1 | c.690insC | p.E231RfsX23 |
| 2 | c.1149C → A; c.1273insA | p.C383X; p.T425NfsX40 |
| 3 | c.1256_1265 delGCACCGTGGC; c.1273insA | p.R419PfsX10; p.T425NfsX40 |
| 4 | c.1273insA | p.T425NfsX40 |
| 5 | c.1273insA | p.T425NfsX40 |
| 6 | c.1273insA | p.T425NfsX40 |
| 7 | c.1273insA | p.T425NfsX40 |
| 8 | c.1359insA | p.E454RfsX11 |
| 9 | c.1463C → T | p.R489X |
| 10 | c.2034_2035 delinsA | p.H679TfsX40 |
OBSL1 mutations identified in 10 families with 3-M syndrome. Where a single mutation is listed, patients are homozygous for that mutation.