Table 3.
Human population variation in IGFBPs
| Protein | Number of codonsa | Missense and in-frame insertions-deletions | Frame shifts; stop codons | Splicing site changes | Loss of start codon | Loss of stop codon | Total number of different changes | Variants per codon | Total variant alleles in population |
|---|---|---|---|---|---|---|---|---|---|
| IGFBP1 | 259 | 79 | 7 | 1 | 0 | 1 | 88 | 0.34 | 36.0% |
| IGFBP2 | 325 | 86 | 6 | 0 | 0 | 0 | 92 | 0.28 | 3.8% |
| IGFBP3 | 297 | 71 | 2 | 0 | 0 | 0 | 73 | 0.27 | 5.0% |
| IGFBP4 | 258 | 55 | 0 | 2 | 0 | 1 | 58 | 0.22 | 0.2% |
| IGFBP5 | 272 | 86 | 1 | 0 | 0 | 0 | 87 | 0.32 | 2.8% |
| IGFBP6 | 240 | 70 | 9 | 1 | 0 | 0 | 80 | 0.33 | 0.6% |
| IGFALS | 643 | 346 | 21 | 1 | 1 | 1 | 370 | 0.58 | 5.0%b |
a Based on transcript used in ExAC database.
b Three predicted major variants do not correspond with the amino acid sequence of IGFALS and are not included in the compiled data.