Table 5.
Summary of known LBSL mutations and their corresponding amino acid change.
| Nucleotide change | Amino acid change | Reference(s) |
|---|---|---|
| c.133A>G | p.S45G | Scheper et al., 2007 |
| c.172C>G | p.R58G | Kohler et al., 2015 |
| c.228-10C>A | p.R76SfsX5 | Scheper et al., 2007; Steenweg et al., 2012 |
| c.228-11C>G | p.R76SfsX5 | Scheper et al., 2007; Schicks et al., 2013 |
| c.228-12C>A | p.R76SfsX5 | Galluzzi et al., 2011; Sharma et al., 2011 |
| c.228-12C>G | p.R76SfsX5 | Orcesi et al., 2011; Steenweg et al., 2012 |
| c.228-15C>A | p.R76SfsX5 | Scheper et al., 2007; Steenweg et al., 2012; Yelam et al., 2019 |
| c.228-15C>G | p.R76SfsX5 | Scheper et al., 2007; Shimojima et al., 2017 |
| c.228-16C>A | p.R76SfsX5 | Scheper et al., 2007; Lin et al., 2010; Steenweg et al., 2012; Lan et al., 2017 |
| c.228-16C>G | p.R76SfsX5 | Labauge et al., 2011; Steenweg et al., 2012 |
| c.228-20_21delTTinsC | p.R76SfsX5 | Scheper et al., 2007; Uluc et al., 2008; Erturk et al., 2010; Isohanni et al., 2010; Mierzewska et al., 2011; Tzoulis et al., 2012; Cheng et al., 2013; Martikainen et al., 2013; Alibas et al., 2014; Tylki-Szymanska et al., 2014; Cavusoglu et al., 2018; Gonzalez-Serrano et al., 2018; Werner et al., 2018 |
| c.228-22T>A | p.R76SfsX5 | Miyake et al., 2011 |
| c.228-24insT | p.R76SfsX5 | Orcesi et al., 2011 |
| c.259G>A | p.D87N | Rathore et al., 2017 |
| c.295-2A>G | p.A100_P132del | Scheper et al., 2007 |
| c.396+2T>G | p.A100_P132del | Scheper et al., 2007 |
| c.358_359delinsTC | p.G120S | Shimojima et al., 2017 |
| c.374G>A | p.R125H | Ikazabo et al., 2020 |
| c.397-2A>G | p.M134_K165del | Scheper et al., 2007; Erturk et al., 2010 |
| c.492+2T>C | p.M134_K165del | Scheper et al., 2007; Isohanni et al., 2010; Galluzzi et al., 2011; Moore et al., 2012; Steenweg et al., 2012; Martikainen et al., 2013; Alibas et al., 2014; Grechanina and Zdubskaya, 2014; Tylki-Szymanska et al., 2014 |
| c.416T>C | p.I139T | Steenweg et al., 2012 |
| c.455G>T | p.C152F | Scheper et al., 2007; Isohanni et al., 2010; Steenweg et al., 2012; Cavusoglu et al., 2018; Werner et al., 2018 |
| c.473A>T | p.E158V | Moore et al., 2012 |
| c.536G>A | p.R179H | Scheper et al., 2007 |
| c.550C>A | p.Q184K | Scheper et al., 2007 |
| c.563G>A | p.R188Q | Yahia et al., 2018 |
| c.617_663del | p.F207CfsX25 | Schicks et al., 2013 |
| c.716T>C | p.L239P | Lin et al., 2010 |
| c.742C>A | p.Q248K | Scheper et al., 2007 |
| c.745C>A | p.L249I | Labauge et al., 2011 |
| c.749T>C | p.L250P | Steenweg et al., 2012 |
| c.787C>T | p.R263X | Scheper et al., 2007 |
| c.788G>A | p.R263Q | Scheper et al., 2007; Rathore et al., 2017 |
| c.822_825del | p.R274SfsX9 | Steenweg et al., 2012 |
| c.850G>A | p.E284K | Cheng et al., 2013 |
| c.1013G>A | p.G338E | Gonzalez-Serrano et al., 2018; Ikazabo et al., 2020 |
| c.1069C>T | p.Q357X | Sharma et al., 2011 |
| c.1129_1191 | p.K377_Q397del | Lan et al., 2017 |
| c.1272_1273G>C | p.E424NfsX1 | Scheper et al., 2007 |
| c.1273G | p.E425X | Scheper et al., 2007 |
| c.1345-17del13 | p.C449_K521del | Uluc et al., 2008 |
| c.1395_1396delAA | p.G467SfsX7 | Tzoulis et al., 2012 |
| c.1564_1674del | p.A522_K558del | Scheper et al., 2007 |
| c.1679A>T | p.D560V | Scheper et al., 2007 |
| c.1762C>G | p.L588V | Yahia et al., 2018 |
| c.1825C>T | p.R609W | Synofzik et al., 2011 |
| c.1837C>T | p.L613F | Scheper et al., 2007 |
| c.1875C>G | p.L626V | Scheper et al., 2007 |
| c.1876T>A | p.L626Q | Scheper et al., 2007 |
| c.1886A>G | p.Y629C | Scheper et al., 2007 |