TABLE 5.
Mutations in the coding sequence of DSPP associated with DD-Ⅱ.
| Location | cDNA | Protein | Mutation class | References |
|---|---|---|---|---|
| Exon 2 | c.16T>G | p.(Tyr6Asp) | Missense | Rajpar et al. (2002) |
| Intron 2 | c.52-6T>G(IVS2-6T>G) | p.(Val18_Gln45del) | Splice site | Lee et al. (2008) |
| Exon 5 | c.1686delT | p.(Asp562GlufsX752) | Frameshift | Nieminen et al. (2011) |
| Exon 5 | c.1830delC | p.(Ser610ArgfsX704) | Frameshift | Nieminen et al. (2011) |
| Exon 5 | c.1870_1873delTCAG | p.(Ser624TyrfsX687) | Frameshift | McKnight et al. (2008a) |
| Exon 5 | c.1874_1877delACAG | p.(Asp625AlafsX687) | Frameshift | Li et al. (2017) |
| Exon 5 | c.1918_1921delTCAG | p.(Ser640TyrfsX671) | Frameshift | McKnight et al. (2008a) |
| Exon 5 | c.1918-1921delTCAG | p.(Ser640TyrfsX673) | Frameshift | Nieminen et al. (2011) |
| Exon 5 | c.1922-1925delACAG | p.(Asp641AlafsX672) | Frameshift | Nieminen et al. (2011) |
| Exon 5 | c.2040delC | p.(Ser680fsX1313) | Frameshift | Song et al. (2008) |
| Exon 5 | c.2063delA | p(Asp688ValfsX626) | Frameshift | Nieminen et al. (2011) |
| Exon 5 | c.2134delA | p.(Ser712AlafsX602) | Frameshift | Lee et al. (2019) |
| Exon 5 | c.3135delC | p.(Ser1045ArgfsX269) | Frameshift | Yang et al. (2016a) |
| Exon 5 | c.3141delC | p.(Ser1047fsX223) | Frameshift | McKnight et al. (2008b) |
| Exon 5 | c.3179delG | p.(Ser1060ThrfsX254) | Frameshift | Lee et al. (2019) |
| Exon 5 | c.3480_3481insCTGCT | p.(Asp1161LeufsX155) | Frameshift | Lee et al. (2019) |