Research Article
Identification of Two DNMT3A Mutations Compromising Protein Stability and Methylation Capacity in Acute Myeloid Leukemia
Table 2
Mutational profile of AML#2 at diagnosis and relapse.
| Pt | Gene | Locus | NM_ID | Exon | Type | Coding | Amino acid change | VAF (%) | Variant effect |
| AML#2Dx | DNMT3A | chr2:25458586 | NM_022552.4 | 22 | INDEL | c.2586_2587ins | p.Glu863Ser | 35.79 | Nonsense | TET2 | chr4:106155491 | NM_001127208.2 | 3 | INDEL | c.395delA | p.Asn132fs | 38.55 | fs del | TET2 | chr4:106197168 | NM_001127208.2 | 11 | INDEL | c.5504delG | p.Gly1835fs | 43.60 | fs del | NPM1 | chr5:170837545 | NM_002520.6 | 11 | INDEL | c.863_864insCTTG | p.Trp288fs | 37.41 | fs ins | FLT3 | chr13:28608308 | NM_004119.2 | 14 | INDEL | c.1747_1748ins | p.Gly583_Ser584ins | 11.70 | Nonfs ins | AML#2R | DNMT3A | chr2:25458586 | NM_022552.4 | 22 | INDEL | c.2586_2587ins | p.Glu863Ser | 42.45 | Nonsense | TET2 | chr4:106155491 | NM_001127208.2 | 3 | INDEL | c.395delA | p.Asn132fs | 48.34 | fs del | TET2 | chr4:106197168 | NM_001127208.2 | 11 | INDEL | c.5504delG | p.Gly1835fs | 49.65 | fs del | NPM1 | chr5:170837545 | NM_002520.6 | 11 | INDEL | c.863_864insCTTG | p.Trp288fs | 42.87 | fs ins | WT1 | chr11:32417943 | NM_024426.4 | 7 | SNV | c.1109G > C | p.Arg370Pro | 48.25 | Missense | FLT3 | chr13:28608308 | NM_004119.2 | 14 | INDEL | c.1747_1748ins | p.Gly583_Ser584ins | 40.10 | Nonfs ins |
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Pt: patient; Dx: diagnosis; R: relapse; SNV: single-nucleotide variant; INDEL: insertion/deletion; ins: insertion; fs: frameshift; del: deletion; insertion of 35 nucleotides: TCATGAATGAGAAAGAGGACATCTTATGGTGCAC; insertion of 57 nucelotides: GCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCCA; SerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGluTyrAspProSer. |