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. 2013 Jul 17;4(4):298–314. doi: 10.4161/nucl.25751

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