Table 2.
Results nuclear morphology analysis of control- and published laminopathy fibroblasts
ID | LMNA varianta | Other varianta | % abnorm. nuclei | # total nuclei | # norm. nuclei | # abnorm. nuclei | type of abnormalityb | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
B | HC | D | B+HC | B+D | |||||||
1 | p.(Lys32del) | 10.67 | 300 | 268 | 32 | 19 | 4 | 8 | 1 | 0 | |
2 | p.(Tyr259*) | 53.00 | 300 | 141 | 159 | 6 | 145 | 1 | 7 | 0 | |
3 | p.(Arg331Gln) | 22.00 | 500 | 390 | 110 | 31 | 68 | 10 | 0 | 1 | |
4 | p.(Arg439Cys) | 24.50 | 200 | 151 | 49 | 31 | 10 | 6 | 1 | 1 | |
5 | p.(Arg482Trp) | 24.50 | 200 | 151 | 49 | 43 | 0 | 4 | 1 | 1 | |
6 | p.(Thr528Met) | 13.50 | 800 | 692 | 108 | 29 | 50 | 18 | 11 | 0 | |
7 | p.(Thr528Met) + p.(Met540Thr) | 39.80 | 1000 | 602 | 398 | 46 | 202 | 10 | 140 | 0 | |
8 | p.(Glu537Val_fs*14) | 30.00 | 200 | 140 | 60 | 11 | 13 | 26 | 7 | 3 | |
9 | p.(Gly607_656del) | 14.12 | 500 | 438 | 62 | 38 | 10 | 11 | 2 | 1 | |
10 | None | 3.33 | 300 | 290 | 10 | 4 | 4 | 1 | 1 | 0 | |
11 | None | 4.33 | 300 | 287 | 13 | 11 | 0 | 2 | 0 | 0 | |
12 | None | 4.67 | 300 | 286 | 14 | 11 | 0 | 3 | 0 | 0 | |
13 | None | SCN5A p.(Phe1617del) | 6.00 | 300 | 282 | 18 | 8 | 3 | 3 | 4 | 0 |
14 | None | SCN5A p.(Phe1617del) | 5.67 | 300 | 283 | 17 | 3 | 7 | 6 | 1 | 0 |
15 | None | 5.33 | 300 | 284 | 16 | 11 | 0 | 5 | 0 | 0 | |
16 | None | MYH7 p.(Ala161Pro) | 5.33 | 300 | 284 | 16 | 9 | 1 | 6 | 0 | 0 |
17 | None | 3.33 | 300 | 290 | 10 | 5 | 1 | 4 | 0 | 0 |
aProtein change identified variant according to LMNA NG_008692.2 NM_170707.3; SCN5A NG_008934.1 NM_198056.2; MYH7 NG_007884.1 NM_00257.3)
bType of abnormality: B, Blebs/herniations; HC, honeycomb-like structure; D, donut-like structures, or combinations of aforementioned