Table 2 of
Mohanty, Mol Vis 2013; 19:78-84. Table 2 of
Mohanty, Mol Vis 2013; 19:78-84.
Table 2. Summary of variations reported for LTBP2 gene (Ensembl)
| Number of variants | Type of variations | Description of variations |
|---|---|---|
| 1267 | ALL | All variations |
| 4 | Essential splice site | In the first 2 or the last 2 base pairs of an intron |
| 9 | Stop gained | In coding sequence, resulting in the gain of a stop codon |
| 14 | Frameshift coding | In coding sequence, resulting in a frameshift |
| 344 | Non-synonymous coding | In coding sequence and results in an amino acid change in the encoded peptide sequence |
| 32 | Splice site | 1–3 bps into an exon or 3–8 bps into an intron |
| 251 | Synonymous coding | In coding sequence, not resulting in an amino acid change (silent mutation) |
| 2 | Coding unknown | In coding sequence within determinate effect |
| 13 | 5 prime UTR | In 5 prime untranslated region |
| 27 | 3 prime UTR | In 3 prime untranslated region |
| 555 | Intronic | In intron |
| 332 | NMD transcript | Located within a transcript predicted to undergo nonsense-mediated decay |
| 99 | Within non-coding gene | Located within a gene that does not code for a protein |
| 2 | Upstream | Within 5 kb upstream of the 5 prime end of a transcript |
| 11 | Downstream | Within 5 kb downstream of the 3 prime end of a transcript |