Table 6.
Summary of SLC7A9 alleles detected
| Variant Type | SLC7A9 | Location of Mutation | Predicted Protein Sequence | No. | |
|---|---|---|---|---|---|
| Missense | c.313G>A | Exon 4 | p.Gly105Arg | 8 | Known |
| Missense | c.368C>T | Exon 4 | p.Thr123Met | 1 | Known |
| Missense | c.544G>A | Exon 5 | p.Ala182Thr | 8 | Known |
| Missense | c.671C>T | Exon 6 | p.Ala224Val | 10 | Known |
| Missense | c.962G>A | Exon 9 | p.Cys321Tyr | 1 | Novel |
| Missense | c.997C>T | Exon 10 | p.Arg333Trp | 1 | Known |
| Missense | c.1060G>A | Exon 10 | p.Ala354Thr | 1 | Known |
| Missense | c.1369T>C | Exon 12 | p.Tyr457His | 1 | Novel |
| Nonsense | c.1353C>A | Exon 12 | p.Tyr451* | 1 | Novel |
| Frameshift | c.411_412delTG | Exon 4 | p.Pro139Leufs*69 | 3 | Novel |
| Frameshift | c.414_415delGC | Exon 4 | p.Pro139Leufs*69 | 1 | Knowna |
| Frameshift | c.614dupA | Exon 6 | p.Asn206Glufs*3 | 15 | Known |
| Splice site | c.1399+4_1399+7del | Intron 12 | 4 | Knowna | |
| Splice site | c.1400–2A>G | Intron 12 | 2 | Knowna | |
| Deletion | Del exon 12 | Exon 12 | 6 | Known | |
| Total | 63 |
Del, deletion; dup, duplication.
a
Recently reported in United Kingdom patients.