SNVs and indels found in RAD21 in 170 AML patients
| RAD21 . | Mutation type . | Position . | Allele . | Protein . | AML type . | Polyphen . | RAS status . |
|---|---|---|---|---|---|---|---|
| Exon 2 | Missense | chr8: 117878875 | G>C | p.V32L | CN-AML with NPM1 | probably_damaging(0.816); | wt |
| Exon 5 | Indel | chr8: 117870615 | */+GA | p.S153fs | CN-AML with NPM1 | nonsense | mut |
| Exon 6 | Missense | chr8: 117869507 | A>C | p.L229F | Other, sAML (45,XX,inv(3)(q21q26),−7) | probably_damaging(0.975); | mut |
| Exon 9 | Indel | chr8: 117866622 | */+TTAG | p.S342fs | CBF-AML, t(8;21) | nonsense | mut |
| Exon 10 | Nonsense | chr8: 117864866 | G>T | p. E415X | CN-AML with NPM1 | nonsense | wt |
| Exon 10 | Nonsense | chr8: 117864815 | G>A | p.Q432X | CK-AML | nonsense | wt |
| Exon 14 | Missense | chr8: 117859872 | C>T | p.T588M | CBF-AML, inv (16) | probably_damaging(0.916); | mut |
| Exon 7 | Synonymous | chr8: 117868964 | C>T | p.P245P | CN-AML with NPM1 | N/A | wt |
| Exon 10 | Synonymous | chr8: 117864840 | A>G | p. P423P | CBF-AML, inv(16) | N/A | mut |
| Exon 11 | SNP rs1050838 | chr8: 117864217 | C>T | p.A480A | N/A (observed in n = 28 cases) | N/A | N/A |
| RAD21 . | Mutation type . | Position . | Allele . | Protein . | AML type . | Polyphen . | RAS status . |
|---|---|---|---|---|---|---|---|
| Exon 2 | Missense | chr8: 117878875 | G>C | p.V32L | CN-AML with NPM1 | probably_damaging(0.816); | wt |
| Exon 5 | Indel | chr8: 117870615 | */+GA | p.S153fs | CN-AML with NPM1 | nonsense | mut |
| Exon 6 | Missense | chr8: 117869507 | A>C | p.L229F | Other, sAML (45,XX,inv(3)(q21q26),−7) | probably_damaging(0.975); | mut |
| Exon 9 | Indel | chr8: 117866622 | */+TTAG | p.S342fs | CBF-AML, t(8;21) | nonsense | mut |
| Exon 10 | Nonsense | chr8: 117864866 | G>T | p. E415X | CN-AML with NPM1 | nonsense | wt |
| Exon 10 | Nonsense | chr8: 117864815 | G>A | p.Q432X | CK-AML | nonsense | wt |
| Exon 14 | Missense | chr8: 117859872 | C>T | p.T588M | CBF-AML, inv (16) | probably_damaging(0.916); | mut |
| Exon 7 | Synonymous | chr8: 117868964 | C>T | p.P245P | CN-AML with NPM1 | N/A | wt |
| Exon 10 | Synonymous | chr8: 117864840 | A>G | p. P423P | CBF-AML, inv(16) | N/A | mut |
| Exon 11 | SNP rs1050838 | chr8: 117864217 | C>T | p.A480A | N/A (observed in n = 28 cases) | N/A | N/A |
The chromosomal coordinates refer to the human reference genome hg19 (GRCh37). The predicted effect on protein function was analyzed using the indicated algorithms.
SNV indicates single nucleotide variation; AML, acute myeloid leukemia; RAS, ; chr, chromosome; CN-AML, cytogenetically normal AML; sAML, secondary AML; CBF-AML, core-binding factor AML; CK-AML, complex karyotype AML; fs, frameshift; N/A, not applicable; wt, wild type; and mut, mutated.