Comparison of constraint metrics for point mutations in F11 and F2 genes
| Type of variant . | Expected no. of variants . | Observed no. of variants . | Constraint metric* . |
|---|---|---|---|
| Coagulation FXI (F11)† | |||
| Synonymous | 101.3 | 93 | z = 0.51 |
| Missense | 210.6 | 229 | z = −0.62 |
| LoF | 24.4 | 30 | pLI = 0.00 |
| Coagulation FII (prothrombin, F2)‡ | |||
| Synonymous | 112.1 | 95 | z = 1.00 |
| Missense | 251.0 | 164 | z = 2.69 |
| LoF | 27.4 | 4 | pLI = 0.96 |
| Type of variant . | Expected no. of variants . | Observed no. of variants . | Constraint metric* . |
|---|---|---|---|
| Coagulation FXI (F11)† | |||
| Synonymous | 101.3 | 93 | z = 0.51 |
| Missense | 210.6 | 229 | z = −0.62 |
| LoF | 24.4 | 30 | pLI = 0.00 |
| Coagulation FII (prothrombin, F2)‡ | |||
| Synonymous | 112.1 | 95 | z = 1.00 |
| Missense | 251.0 | 164 | z = 2.69 |
| LoF | 27.4 | 4 | pLI = 0.96 |
LoF, loss of function.
pLI indicates genes are classified in 3 classes according to their tolerance to LoF variants (completely tolerant, heterozygous LoF tolerated, heterozygous LoF not tolerated). pLI expresses the probability for a given gene to fall into the category of extremely intolerant to LoF. pLI ≥ 0.9 is attributed to extremely LoF-intolerant genes. z indicates deviation of observed counts from the expected ones. Positive z scores indicate intolerance to variation (ie, fewer variants than expected). Negative z scores indicate the observation of more variants than expected. For details, see http://exac.broadinstitute.org.
Genomic coordinates: Chr4:187 187 099-187 210 835 (gene length, 23 736; 15 exons).
Genomic coordinates: Chr11:46 740 730-46 761 056 (gene length, 20 326; 14 exons).