Table 2.
Identified FBN1 variants using targeted NGS.
| FBN1 variant compared to RS: | Location | Zygosity | SNP ID | Frequency 1 | Splicing 2 | ||
|---|---|---|---|---|---|---|---|
| NC_000015.10 | NM_000138.4 | ||||||
| 1 | g.48610929A>G | c.248-103T>C | intron 3 | HZ | rs1018148 | 0,932343 | NA |
| 2 | g.48537938C>G | c.539-130G>C | intron 6 | HTZ | rs147780575 | NR | NA |
| 3 | g.48494269G>T | c.2678-15C>A | intron 22 | HTZ | NR | NR | A4 |
| 4 | g.48488453G>A | c.3123C>T5 | exon 26 | HTZ | rs576395584 | 0.00001 | NA |
| 5 | g.48444487A>T | c.6037+54T>A | intron 49 | HZ | rs2303502 | 0.22331 | NA |
| 6 | g.48437451T>C | c.6314-64A>G | intron 51 | HZ | rs2042746 | 0.39285 | NA |
| 7 | g.48428329G>C | c.6997+17C>G | intron 57 | HZ | rs363832 | 0.27742 | NA |
| 8 | g.48421799G>T | c.7571-113C>A | intron 61 | HZ | rs1820488 | 0,813073 | NA |
RS: reference sequence; g.: genomic; c.: coding DNA; HZ: homozygous; HTZ: heterozygous; NR: not registered; NA: not affected; A: affected.
1Population frequency from gnomAD (Genome Aggregation Database) except 3from dbSNP.
2Alamut Visual v.2.9 predictions.
4Activation of a cryptic acceptor splice site at c.2678-13 (see Figure 3).
5NP_000129.3:p.(His1041=).