WT1 Mutations in Leukemia
Mutation . | Exon . | . | Sample . | Expression . | Reference No. . |
---|---|---|---|---|---|
Frameshifts | |||||
Insertion 10 bp after Ala144 | Exon 1 | Heterozygous | 87 | — | This study |
Insertion 1 bp after Ser121 | Exon 1 | Compound heterozygous | 58 | Expressed | 5 |
Duplication 4 bp after Ser313 | Exon 7 | Compound heterozygous | 58 | Unknown | 5 |
Insertion 5 bp after Val300 | Exon 7 | Heterozygous | 132 | Mutant allele only | 5 |
Insertion 1 bp after Arg302 | Exon 7 | Heterozygous | 126 | — | This study |
Insertion 4 bp after Arg302 | Exon 7 | Heterozygous | 216 | Complex | 5 |
Nonsense | |||||
C → T Arg390 → Stop | Exon 9 | Heterozygous | 232M | Both alleles | 5 |
Missense | |||||
T → C Cys282 → Arg | Exon 6 | Heterozygous | 146 | Both alleles | This study |
C → T Arg394 → Trp | Exon 9 | Heterozygous | 101 | Mutant allele only | This study |
Mutation . | Exon . | . | Sample . | Expression . | Reference No. . |
---|---|---|---|---|---|
Frameshifts | |||||
Insertion 10 bp after Ala144 | Exon 1 | Heterozygous | 87 | — | This study |
Insertion 1 bp after Ser121 | Exon 1 | Compound heterozygous | 58 | Expressed | 5 |
Duplication 4 bp after Ser313 | Exon 7 | Compound heterozygous | 58 | Unknown | 5 |
Insertion 5 bp after Val300 | Exon 7 | Heterozygous | 132 | Mutant allele only | 5 |
Insertion 1 bp after Arg302 | Exon 7 | Heterozygous | 126 | — | This study |
Insertion 4 bp after Arg302 | Exon 7 | Heterozygous | 216 | Complex | 5 |
Nonsense | |||||
C → T Arg390 → Stop | Exon 9 | Heterozygous | 232M | Both alleles | 5 |
Missense | |||||
T → C Cys282 → Arg | Exon 6 | Heterozygous | 146 | Both alleles | This study |
C → T Arg394 → Trp | Exon 9 | Heterozygous | 101 | Mutant allele only | This study |