Table 2 SLC22A5 variants and allele distributions in patients with primary carnitine deficiency (PCD)
No | Location | Variants | Variant type | Mutant allele (No.) | Allele frequency (%) |
|---|---|---|---|---|---|
1 | Exon 4 | c.760C > T (p.R254*) | Nonsense | 31 | 31.63 |
2 | Exon 8 | c.1400C > G (p.S467C) | Missense | 16 | 16.33 |
3 | Exon 1 | c.51C > G (p.F17L) | Missense | 17 | 17.35 |
4 | Exon 4 | c.695C > T (p.T232M) | Missense | 7 | 7.14 |
5 | Exon 1 | c.338G > A (p.C113Y) | Missense | 4 | 4.08 |
6 | Exon 7 | c.1139C > T (p.A380V) | Missense | 4 | 4.08 |
7 | Exon 4 | c.797C > T (p.P266L) | Missense | 3 | 3.06 |
8 | Exon 7 | c.1195C > T (p.R399W) | Missense | 3 | 3.06 |
9 | Exon 2 | c.428C > T (p.P143L) | Missense | 2 | 2.04 |
10 | Exon 7 | c.1161 T > G (p.Y387*) | Nonsense | 2 | 2.04 |
11 | Exon 1 | c.250 T > A (p.Y84N) | Missense | 1 | 1.02 |
12 | Intron 1 | c.394-1G > A | Splice | 1 | 1.02 |
13 | Exon 4 | c.782_799del (p.V261_P266del) | Frameshift | 1 | 1.02 |
14 | Exon 7 | c.1144_1162del (p.V382Cfs*45) | Frameshift | 1 | 1.02 |
15 | Exon 4 | c.822G > A (p.W274*) | Nonsense | 1 | 1.02 |
16 | Exon 5 | c.844C > T (p.R282*) | Nonsense | 1 | 1.02 |
17 | Exon 5 | c.845G > A (p.R282Q) | Missense | 1 | 1.02 |
18 | Exon 7 | c.1160A > G (p.Y387C) | Missense | 1 | 1.02 |
19 | Exon 7 | c.1196G > A (p.R399Q) | Missense | 1 | 1.02 |
Total | 98 | 100.00 | |||