Table 2
Results of FBN1 analysis in 11 consecutive patients affected by predominant EL
| Patient | Mutation site | Nucleotide | Amino acid | Protein domain | References |
|---|---|---|---|---|---|
| OP | Exon 4 | C364T | R122C | EGF-like No 2 | 13, 18, 19, this report |
| BM | Exon 5 | A491G | N164S | EGF-like No 3 | This report |
| RWT | Exon 6 | C718T | R240C | Hybrid Motif No 1 | 13, 14, this report |
| GB | Exon 13 | C1633T | R545C | cbEGF-like No 4 | 13, 17, this report |
| JL | Exon 13 | C1633T | R545C | cbEGF-like No 4 | 13, 17, this report |
| NS | Exon 15 | T1900C | S634P | cbEGF-like No 6 | This report |
| MG | Exon 15 | G1955A | C652Y | cbEGF-like No 6 | This report |
| VW | Exon 31 | A3963G | – | cbEGF-like No 1 | 21, this report |
| IBP | Intron 6 | IVS6 del T -26 | – | cbEGF-like No 40 | 22, this report |
| MZ | Intron 62 | IVS62 A+8 to C | – | cbEGF-like No 41 | 14, this report |
| SR | No mutation identified | ||||
