Table 3.
Number and severity of amino acids substituting for glycine reported in COL1A1 and COL1A2 genes.
| Amino acid | ALA | ARG | ASP | CYS | GLU | SER | TRP | VAL | Total | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OI Type/Gene | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 | COL1A1 | COL1A2 |
| OI 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 1 | 1 | 3 |
| OI 2 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 3 | 0 |
| OI 3 | 5 | 0 | 1 | 3 | 0 | 2 | 2 | 1 | 1 | 0 | 9 | 3 | 1 | 0 | 1 | 1 | 20 | 10 |
| OI 4 | 2 | 0 | 0 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 6 | 0 | 0 | 3 | 1 | 6 | 10 |
| Total | 7 | 0 | 3 | 4 | 0 | 3 | 2 | 2 | 1 | 0 | 11 | 11 | 1 | 0 | 5 | 3 | 30 | 23 |