Table 2 of
Liu, Mol Vis 2023; 29:169-179. Table 2 of
Liu, Mol Vis 2023; 29:169-179.
Table 2. Novel LTBP2 mutations identified in CEL patients in this study.
| Position at Chr | Exon | cDNA Change | Amino acid Change | Mutation type | Mutation Taster | SIFT | Polyphen2 | BDGP | NetGene2 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | Exon 30 | c.4370-7_4370-9delTCT | - | Splicing | - | - | - | LAS | LAS |
| 14 | Exon 30 | c.4370-5C>G | - | Splicing | - | - | - | LAS | LAS |
| 14 | Exon 23 | c.3452G>A | p.C1151Y | Missense | Disease causing | Damaging | Probably damaging | - | - |
| 14 | Exon 12 | c.2253delG | p.R751fs | Frameshift | - | - | - | - | - |
| 14 | Exon 28 | c.4114T>C | p.C1372R | Missense | Disease causing | Damaging | Probably damaging | - | - |
| 14 | Exon 6 | c.1251G>A | p.W417X | Nonsense | Disease causing | - | - | - | - |
| 14 | Exon 33 | c.4760G>A | p.W1587X | Nonsense | Disease causing | - | - | - | - |
| 14 | Exon 3 | c.620G>A | p.C207Y | Missense | Disease causing | Damaging | Probably damaging | - | - |