Table 1.
Summary of individuals with different alleles present at the trinucleotide repeat locus starting at 31,727,019, including ‘CAA’ copy number, annotation, individual count and mean protein content
| Trinucleotide copies | Annotation | Individuals | Mean protein |
|---|---|---|---|
| 5 | (reference) | 787 | 43.86 |
| 6 | CIF | 2 | 49.85 |
| 7 | CIF | 10 | 46.67 |
| 8 | CIF | 8 | 45.64 |
| 9 | CIF | 21 | 46.75 |
| 10 | CIF | 13 | 48.19 |
| 11 | CIF | 24 | 47.19 |
| 12 | CIF | 46 | 46.68 |
| 13 | CIF | 30 | 48.97 |
| 14 | CIF | 1 | 50.20 |
| Other | 2xDIF; 2 × FSV | 4 | 44.78 |
| Heterozygous repeats | N/A | 11 | 47.09 |
| Single repeat | N/A | 15 | 47.03 |
| Missing | N/A | 13 | 46.92 |
| Total | N/A | 985 | 44.54 |
The ‘other’ row refers to four individuals with insertions at this locus that did not fit the typical tandem repeat structure; ‘heterozygous repeats’ row refers to individuals that are heterozygous at the locus with two different insertions; ‘single repeat’ refers to individuals that are heterozygous with one copy of any insertion and one reference allele; ‘other’ refers to individuals that are homozygous for an insertion that is not a trinucleotide repeat of ‘CAA’; ‘missing’ refers to individuals with one or both missing alleles. Annotations include conservative in-frame insertion (CIF), disruptive in-frame insertion (DIF) and frameshift variant (FSV)