Table 3 of
Jin, Mol Vis 2007;
13:1280-1284.Table 3 of
Jin, Mol Vis 2007;
13:1280-1284.
Table 3. Arginine to cysteine substitutions related to FBN1 mutations
Arginine to cysteine substitutions are highly related to predominant EL, regardless of which modules they are located. The recurrence of mutations resulting in arginine to cysteine substitutions is significantly higher (p<0.001, Mann-Whitney U Test) than other types of mutations according to the UMD-FBN1 database for MFS and its associated disorders. AA=amino acid; EL=ectopia lentis.
AA substitutions Mutations Exons EL Protein domains Recurrence ---------------- --------- ----- --- ---------------------- ---------- p.Arg62Cys c.184C>T 2 Yes NH2 unique region 5 p.Arg122Cys c.364C>T 4 Yes non cb EGF-like No. 02 6 p.Arg240Cys c.718C>T 6 Yes hybrid motif No. 01 3 p.Arg545Cys c.1633C>T 13 Yes cb EGF-like No. 04 7 p.Arg627Cys c.1879C>T 15 Yes cb EGF-like No. 06 4 p.Arg1530Cys c.4588C>T 37 Yes 8-Cys/TB No. 04 3 p.Arg1832Cys c.5494C>T 44 ? cb EGF-like No. 26 1 p.Arg2680Cys c.8038C>T 63 Yes cb EGF-like No.43 2 |