TABLE 1.
Pseudoexon mutations that enhance pseudoexon branch point motifs.
| Gene | Intron | # | Mutation | AGEZ | Max BPS | Pyr SNV? | References |
|---|---|---|---|---|---|---|---|
| ABCA4 (NM_000350.3) | 6 | 1 | c.769-784C>T | 17 | 0.22 | Yes | Sangermano et al. (2019) |
| CCN6 (NM_003880.4) | 2 | 1 | c.49-763G>T | 24 | −0.15 | Yes | Garcia-Segarra et al. (2012) |
| COL4A5 (NM_000495.5) | 29 | 1 | c.2395+1275C>G; c.2395+1292G>T | 13 -> 59 | −1.28 -> −0.03 | Yes | Wang et al. (2021) |
| DMD (NM_004006.3) | 26 | 2 | c.3603+820G>T | 16 -> 42 | 0.57 -> 1.00 | Yes | Waddell et al. (2021) |
| 37 | 2 | c.5325+1740_5325+1757del | 17 | −1.33 -> −0.06 (MC) | — | Bovolenta et al. (2008) | |
| F8 (NM_000132.4) | 13 | 2a | c.2113+461_2113+473del | 74 -> 61 | 0.83 (MC) | — | Jourdy et al. (2018) |
| 18 | 2b | c.5999-798G>A | 8 -> 65 | 0.23 | No | Pezeshkpoor et al. (2013) | |
| KRIT1 (NM_194456.1) | 6 | 1 | c.262+132_262+133del | 9 -> 88 | 0.14 | — | Riant et al. (2014) |
| NF1 (NM_001042492.3) | 8 | 3 | c.889-941G>T | 8 -> 21 | −0.73 | Yes | Pros et al. (2008) |
| NF2 (NM_000268.4) | 5 | 1 | c.516+232G>A | 15 -> 40 | 0.06 -> 3.37 | No | De Klein et al. (1998) |
| PAH (NM_000277.3) | 11 | 1 | c.1199+502A>T | 34 | −1.64 -> −0.16 | Yes | Jin et al. (2021) |
| PKHD1 (NM_138694.4) | 56 | 1 | c.8798-459C>A | 46 | −1.42 -> 1.95 | No | Chen et al. (2019) |
| PTS (NM_000317.3) | 2 | 1b | c.163+696del55 | 17 -> 28 | −1.83 -> 1.01 (MC) | — | Meili et al. (2009) |
| RPGRIP1 (NM_020366.4) | 12 | 1a | c.1468-263G>C | 10 -> 24 | −0.56 | Yes | Jamshidi et al. (2019), Zou et al. (2021) |
“AGEZ,” “Max BPS,” and “Pyr SNV?” changes that are predicted to enhance branch point definition are in bold text. Cases where deletion mutations moved a branch point site closer to the AGEZ/acceptor site are noted in the “Max BPS” column as “(MC).”