Table 2.
Gene | Exon | DNA change | Protein change |
---|---|---|---|
COL1A1 | 1 | c.64 G > C | p.(Gly22Arg) |
8 | c.608 G > A | p.(Gly203Asp) | |
20 | c.1353 + 1 G > A | / | |
21 | c.1462-2 A > G | / | |
22 | c.1471 G > A | p.(Gly491Ser) | |
23 | c.1562 G > A | p.(Gly521Glu) | |
25 | c.1678G > A | p.(Gly560Ser) | |
25 | c.1714G > C | p.(Gly572Arg) | |
26 | c.1821 + 4_1821 + 7del | / | |
33_34 | c.2299 G > A | p.(Gly767Ser) | |
37 | c.2515 G > C | p.(Gly839Arg) | |
42 | c.3038 G > A | p.(Gly1013Glu) | |
43 | c.3065 G > T | p.(Gly1022Val) | |
45 | c.3235 G > C | p.(Gly1079Arg) | |
46 | c.3263 G > C | p.(Gly1088Ala) | |
COL1A2 | 19 | c.1027 G > A | p.(Gly343Arg) |
25 | c.1460 G > A | p.(Gly487Gu) | |
26 | c.1541 G > T | p.(Gly514Val) | |
29 | c.1685G > A | p.(Gly562Asp) | |
30 | c.1730G > A | p.(Gly577Asp) | |
31 | c.1774G > A | p.(Gly592Ser) | |
38 | c.2333 G > A | p.(Gly778Asp) | |
41 | c.2621 G > A | p.(Gly874Asp) |
The five mutations identified in the “lethal clusters” described by Marini et al. [8] are in bold