MUNC13-4 mutations in patients with FHL3
UPN, mutations . | Mutation type . | Predicted effect . | Munc13-4 expression . |
|---|---|---|---|
| 180 | Absent | ||
| G175A | Heterozygous | A59T | |
| 753 + 1G > T | Homozygous | splice error | |
| 277 | Trace | ||
| del 3082C | Heterozygous | 1028 Fs | |
| G1241T, C2782T | Heterozygous | R414L, R928C | |
| 249 | Trace | ||
| A1847G | Homozygous | E616G | |
| 237 | Trace | ||
| A1847G | Heterozygous | E616G | |
| G1241T, C2782T | Heterozygous | R414L, R928C | |
| 225 | Trace | ||
| A1847G | Heterozygous | E616G | |
| 753 + 1G > T | Heterozygous | splice error | |
| 289 | Trace | ||
| A610G, C2650T | Heterozygous | M204V, Q884X | |
| ins G3226 | Heterozygous | 1076 FsX | |
| 293 | Reduced | ||
| del 1822-1833 | Homozygous | del V608-A611 | |
| 336 | Absent | ||
| G175A | Homozygous | A59T | |
| del 441A | Homozygous | 147 Fs |
UPN, mutations . | Mutation type . | Predicted effect . | Munc13-4 expression . |
|---|---|---|---|
| 180 | Absent | ||
| G175A | Heterozygous | A59T | |
| 753 + 1G > T | Homozygous | splice error | |
| 277 | Trace | ||
| del 3082C | Heterozygous | 1028 Fs | |
| G1241T, C2782T | Heterozygous | R414L, R928C | |
| 249 | Trace | ||
| A1847G | Homozygous | E616G | |
| 237 | Trace | ||
| A1847G | Heterozygous | E616G | |
| G1241T, C2782T | Heterozygous | R414L, R928C | |
| 225 | Trace | ||
| A1847G | Heterozygous | E616G | |
| 753 + 1G > T | Heterozygous | splice error | |
| 289 | Trace | ||
| A610G, C2650T | Heterozygous | M204V, Q884X | |
| ins G3226 | Heterozygous | 1076 FsX | |
| 293 | Reduced | ||
| del 1822-1833 | Homozygous | del V608-A611 | |
| 336 | Absent | ||
| G175A | Homozygous | A59T | |
| del 441A | Homozygous | 147 Fs |
MUNC13-4 gene mutations in both alleles are listed in the table, including 8 patients with FHL. Munc 13-4 expression was tested by Western blot.
UPN indicates unique patient number; X, stop; Fs, frameshift.