Table 2. Summary of mutations in “conserved” emerin residues identical or homologus in Lap2β.13.
| Name | Wildtype | Mutated |
|---|---|---|
| M11 |
11EL |
11AA |
| M24 |
24GPVV |
24AAA |
| M30 |
30TR |
30AA |
| M34 |
34YEKK |
34AAA |
| S54F* |
54S |
54F |
| m70 |
70DADMY |
70AAMA |
| m76 |
76LPKKEDAL |
76PAKADAA |
| m112 |
112GPSRAVRQSVT |
112AASRAVAAAVA |
| m141 |
114SSSEEECKDR |
141AASAEECKAA |
| m164 |
164ITHYRPV |
164AAHARPA |
| m179 |
179LS |
179AA |
| m196 |
196SS |
196AA |
| m207 |
207RP |
207AA |
| m214 | 214GAGL | 214AAGA |
Sufficient to cause Emery-Dreifuss muscular dystrophy