Table 5.
Summary of SLC3A1 alleles detected
| Variant Type | SLC3A1 | Location of Mutation | Predicted Protein Sequence | No. | |
|---|---|---|---|---|---|
| Missense | c.647C>T | Exon 3 | p.Thr216Met | 2 | Known |
| Missense | c.761A>C | Exon 3 | p.Asn254Thr | 2 | Novel |
| Missense | c.1093C>T | Exon 6 | p.Arg365Trp | 2a | Known |
| Missense | c.1354C>T | Exon 8 | p.Arg452Trp | 3 | Known |
| Missense | c.1372G>A | Exon 8 | p.Gly458Arg | 1b | Novel |
| Missense | c.1400T>C | Exon 8 | p.Met467Thr | 14 | Known |
| Missense | c.1412C>G | Exon 8 | p.Thr471Arg | 2 | Knownc |
| Missense | c.1796T>C | Exon 10 | p.Phe599Ser | 1 | Known |
| Missense | c.1799G>A | Exon 10 | p.Gly600Glu | 1 | Known |
| Nonsense | c.1578G>A | Exon 9 | p.Trp526* | 1 | Novel |
| Nonsense | c.1975C>T | Exon 10 | p.Gln659* | 1 | Novel |
| Frameshift | c.161delC | Exon 1 | p.Gln55fs*51 | 1 | Known |
| Frameshift | c.356dupA | Exon 1 | p.Glu120Glyfs16 | 1 | Novel |
| Frameshift | c.2020dupT | Exon 10 | p.Tyr674Leufs*20 | 6 | Novel |
| Splice site | c.1136+2T>C | Intron 6 | 2 | Known | |
| Splice site | c.1332+2T>A | Intron 7 | 1 | Novel | |
| Deletion | Del exon 2 | 1 | Novel | ||
| Deletion | Del exon 2–3 | 2 | Known | ||
| Deletion | Del exon 2–4 | 1 | Known | ||
| Deletion | Del exons 5–10 | 1 | Known | ||
| Deletion | Del exon 10 | 1 | Known | ||
| Duplication | Dup exons 5–9 | 15 | Known | ||
| Total | 62 |
Del, deletion; dup, duplication.
a
Both alleles in a patient of Pakistani descent.
b
Novel variants detected in a Chinese patient. cRecently reported in United Kingdom patients.