Perforin mutations in patients with FHL2
UPN, mutations . | Mutation type . | Predicted effect . |
|---|---|---|
| 210 | ||
| del 50T | Homozygous | L17 FsX |
| 235 | ||
| del 847-852 | Heterozygous | del L283-L284 |
| C272T | Heterozygous | A91V |
| 256 | ||
| C272T | Heterozygous | A91V |
| G695A | Heterozygous | R232H |
| 314 | ||
| G1122A | Homozygous | W374X |
| 306 | ||
| G1122A | Heterozygous | W374X |
| C657A | Heterozygous | Y219X |
UPN, mutations . | Mutation type . | Predicted effect . |
|---|---|---|
| 210 | ||
| del 50T | Homozygous | L17 FsX |
| 235 | ||
| del 847-852 | Heterozygous | del L283-L284 |
| C272T | Heterozygous | A91V |
| 256 | ||
| C272T | Heterozygous | A91V |
| G695A | Heterozygous | R232H |
| 314 | ||
| G1122A | Homozygous | W374X |
| 306 | ||
| G1122A | Heterozygous | W374X |
| C657A | Heterozygous | Y219X |
Perforin gene mutations in both alleles are listed in the table, including 5 patients with FHL. Perforin expression was tested by flow cytometry, and was found to be absent in all 5 patients.
UPN indicates unique patient number; X, stop; Fs, frameshift.