Table 2 Germline STK11 mutations in PJS patients
From: High prevalence of germline STK11mutations in Hungarian Peutz-Jeghers Syndrome patients
Family | Exon/Intron | Mutation name | Mutation typea | Effect on cDNA or mRNA/protein levelb |
|---|---|---|---|---|
HP01 | ex 2-3 | c.291-5484_464+384del6865 | GD | exon 2-3 skipping |
HP02 | ex 6 | c.801delC | FS | p.Ile267MetfsX20 |
HP03 | ex 1 | c.1-?_290+?del | GD | (no start; 1 allele) |
HP04 | ex 1 | c.180C>A | NS | p.Tyr60X |
HP05 | ex 7 | c.876C>G | NS | p.Tyr292X |
HP06 | ex 1 | c.142A>T | NS | p.Lys48X |
HP07 | ex 4 | c.550delC | FS | p.Leu184SerfsX103 |
HP08 | in 1 | c.291-2A>T | SS | exon 2-3 skipping |
HP09 | ex 4 | c.540delG | FS | p.Asn181ThrfsX107 |
HP10 | ex 3-7 | c.375-106_921-264del3504insA | GD | exon 2-7 skipping |
HP11 | ex 1-3 | c.1-?_464+?del | GD | (no start; 1 allele) |
HP12 | in 4 | c.597+1G>A | SS | exon 4 skipping |
HP13 | ex 1-7 | c.1-?_920+?del | GD | (no start; 1 allele) |