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Table 2 SLC22A5 variants and allele distributions in patients with primary carnitine deficiency (PCD)

From: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

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