Mutation status of patients studied
| Patient | Nucleotide change | Base(s) | Codon(s) | Exon | Amino acid change |
|---|---|---|---|---|---|
| 2 | delCAAAAA | 321-326 | 107-109 | 2 | HKN→H |
| 3 | AAA→AGA | 323 | 108 | 2 | K→R |
| 4 | AAG→TAG | 1246 | 416 | 9 | K→Stop |
| 5 | ND | ||||
| 6 | TAC→TAA | 180 | 60 | 1 | Y→Stop |
| 8 | ND | ||||
| 11 | ND | ||||
| 12 | ND | ||||
| 16 | delC | 528 | 176 | 4 | Stop codon 286 |
| 20 | delC | 842 | 281 | 6 | Stop codon 283 |
| 21 | delC | 842 | 281 | 6 | Stop codon 283 |
| 22 | ND |
Positions given refer to LKB1 cDNA sequence (Genbank U63333). ND = none detected.