Table 2.
Disease-causing mutations in SLC24A4 gene.
| Location | cDNA | Protein | Mode of Inheritance | References |
|---|---|---|---|---|
| Exon 5 | c.437C>T | p.(Ala146Val) | AR homo | Wang et al. (2014) [31] This report |
| Exon 7 | c.613C>T | p.(Arg205*) | AR homo | This report |
| Exon 11 | c.1015C>T | p.(Arg339*) | AR homo | Parry et al. (2013) [20] |
| Exon 12 | c.1192C>T | p.(Gln398*) | AR homo | Khan et al. (2020) [34] |
| Exon 13 | c.1307T>G | p.(Leu436Arg) | AR homo | Herzog et al. (2015) [35] |
| Intron 14 | deletion of 10042 bp | (loss of exons 15–17) | AR homo | Seymen et al. (2014) [36] |
| Exon 14 | c.1495A>T | p.(Ser499Cys) | AR homo | Parry et al. (2013) [20] |
| Exon 15 | c.1604G>A | p.(Gly535Asp) | AR homo | Lepperdinger et al. (2020) [37] |
Sequences based on the reference sequence for mRNA (NM_153646.4) and protein (NP_705932.2), where the A of the ATG translation initiation codon is nucleotide 1.