Patients | Genetic status | cDNA ATG +1 | Protein with signal peptide | Exon | Domain | References |
---|---|---|---|---|---|---|
III.1, III.2, III.4 | He | c.266-?_536 + ?del | - | 2 | - | Not described |
V.1, V.2, V.4 | He | c.80_81delAT | p.D27Afs*18 | 2 | N-terminal | Not described |
I.1 | He | c.485 G > A | p.G162D | 4 | SRCR | Le Quintrec M. et al. 2008[17] |
IV.1, IV.3, IV4, V.1, V.3 | He | c.559 C > T | p.R187X | 4 | SRCR | Not described |
II.1 II.2, II.3 | Ho He | c.772 G > A | p.A258T | 5 | LDLRA2 | Vyse et al. 1996[18] |
I.1, I.2 | He | c.1176_1177dupAT | p.W393Yfs*5 | 11 | SP | Baracho et al. 2003[19] |
III.1, III.3, III.4 | He | c.1420 C > T | p.R474X | 11 | SP | Fremaux-Bacchi et al. 2004[20] |
IV.1, IV.2, IV.4 | He | c.1610_1611insAT | p.V537Vfs*2 | 13 | SP | Not described |