Table 1.
LMNA gene variants identified in this study.
| LMNA Variant (NM_170707) | Exon | Domain | dbSNP | # Proband | # Related Individuals Carrying the Variant |
|---|---|---|---|---|---|
| E161K | 2 | Coil 1B | rs28933093 | 1 (M) | - |
| R189W | 3 | Coil 1B | rs267607626 | 1 (M) | - |
| R189Q | 3 | Coil 1B | rs766856162 | 1 (M) | 1 (F) |
| T224I | 4 | Linker 2 | - | 1 (M) | - |
| R225X | 4 | Linker 2 | rs60682848 | 1 (F) | - |
| R216H | 4 | Linker 2 | rs757041809;/ | 1 (F) | - |
| R331L | 6 | Coil 2 | |||
| E317K | 6 | Coil 2 | rs56816490 | 6 (5M + 1F) | 5 (3M + 2F) |
| G382= | 6 | Coil 2 | rs57508089 | 1 (M) | 1 (M) |
| c.1381-5G > A | Intron 7 | rs730880133 | 1 (M) | - | |
| W467X | 8 | Tail | - | 1 (M) | 1 (M) |
# stands for the number of analyzed proband for each variant on LMNA gene.