Table 1.
EMC | Length(aa) | TMDa(Y/N) | Lethality | Cell lethality | Rh1 level | PDA | |
---|---|---|---|---|---|---|---|
Category 1 | EMC1 | 915 | Yes | Lethal | Lethal | NA | NA |
EMC2 | 282 | No | Lethal | Lethal | NA | NA | |
EMC4 | 166 | Yes | Lethal | Lethal | NA | NA | |
EMC8/9 | 203 | No | Lethal | Lethal | NA | NA | |
Category 2 | EMC6 | 113 | Yes | Lethal | Viableb | Decrease | No PDA |
EMC3 | 247 | Yes | Lethal | Viable | Decrease | No PDA | |
EMC5 | 109 | Yes | Lethal | Viable | Decrease | No PDA | |
Category 3 | EMC7 | 245 | Yes | Viable | Viable | Normal | Normal |
EMC10 | 227 | Yes | Viable | Viable | Normal | Normal |
aTransmembrane domain
bemc6 mutation leads to a rapid degeneration in retinal cells