Table 2.
Distribution of 137 SCARB1 genotyped variants
| Total | MAF ≥5 % | MAF between 1-5 % | MAF ≤1 % | |
|---|---|---|---|---|
| N (%) | n (%) | n (%) | n (%) | |
| Total variants | 137 (100.00) | 94 (68.61) | 20 (14.60) | 23 (16.79) |
| By known/novela | ||||
| Known | 128 (93.43) | 94 (68.61) | 20 (14.60) | 14 (10.22) |
| Single-nucleotide variation | 126 | 92 | 20 | 14 |
| Short indels | 2 | 2 | ||
| Novel | 9 (6.57) | 9 (6.57) | ||
| Single-nucleotide variation | 8 | 8 | ||
| Short indels | 1 | 1 | ||
| By location | ||||
| Exons-codingc | 7 | 4c | 1 | 2 |
| Exons-UTRs | 4 | 1 | 1 | 2 |
| Introns | 118 | 85 | 16 | 17 |
| Introns-splice sitesb | 2 | 1 | 1 | |
| 3′ flanking | 6 | 3 | 2 | 1 |
| By amino acid change | ||||
| Non-synonymousc | 2 | 1c | 1 | |
| Synonymous | 5 | 3 | 1 | 1 |
Indels insertion and deletion variations, MAF minor allele frequency, UTR untranslated region
The list of 137 genotyped variants is shown in Additional file 9: Table S6
The list of 10 novel variants is shown in Additional file 4: Table S4
adbSNP build 139: GRCh37.p10. All 10 novel variants identified in this study have been submitted to dbSNP (batch ID: SCARB1_AB): http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?handle=KAMBOH
bSplice site, defined as ± 20 bp from the start or end of an exon
cIncluding rs701103 (p.Gly499Arg; MAF = 0.2451) that is located in exon 13-3′ UTR and translated only in isoform 2