Somatic nonsynonymous mutations in SCN/AML
| Gene symbol . | RefSeq reference transcript . | Genomic DNA change (NCBI36/hg18) . | cDNA change . | Mutation type . | Amino acid change . | Protein change . |
|---|---|---|---|---|---|---|
| ASXL1 | NM_015338.5 | g.chr20:30485948dupA | c.1772dupA | Indel frameshift | Frameshift and premature stop | p.Y591* |
| CCDC155 | NM_144688.4 | g.chr19:54601976C → T | c.820C → T | Missense | Arg → Trp | p.R274W |
| CSF3R-T595I | NM_000760.3 | g.chr1:36706021G → A | c.1853C → T | Missense | Thr → Ile | p.T595I† |
| CSF3R-d715 | NM_000760.3 | g.chr1:36704841G → A | c.2215C → T | Nonsense | Gln → * | p.Q716*† |
| EP300 | NM_001429.3 | g.chr22:39902447_39902453delTGGAGAC | c.5030_5036delTGGAGAC | Indel frameshift | Frameshift and premature stop | p.V1677Dfs*30 |
| FBXO18 | NM_032807.3 | g.chr10:6003435C → G | c.2372C → G | Missense | Ala → Gly | p.A791G |
| LAMB1 | NM_002291.2 | g.chr7:107387385delG | c.2445delC | Indel frameshift | Frameshift and premature stop | p.P815Pfs*65 |
| LLGL2 | NM_004524.2 | g.chr17:71070826G → C | c.665G → C | Missense | Arg → Pro | p.R222P |
| MGA | NM_001164273.1 | g.chr15:39787311C → T | c.2282C → T | Missense | Pro → Leu | p.P761L |
| RUNX1 | NM_001754.4 | g.chr21:35153662C → T | c.592G → A | Missense | Asp → Asn | p.D198N |
| SUZ12 | NM_015355.2 | g.chr17:27346889_27346891dupATT | c.1789_1791dupATT | Indel | Insertion Ile | p.597dupI |
| ZC3H18 | NM_144604.3 | g.chr16:87192175delC | c.777delC | Indel frameshift | Frameshift and premature stop | p.P259Pfs*15 |
| Gene symbol . | RefSeq reference transcript . | Genomic DNA change (NCBI36/hg18) . | cDNA change . | Mutation type . | Amino acid change . | Protein change . |
|---|---|---|---|---|---|---|
| ASXL1 | NM_015338.5 | g.chr20:30485948dupA | c.1772dupA | Indel frameshift | Frameshift and premature stop | p.Y591* |
| CCDC155 | NM_144688.4 | g.chr19:54601976C → T | c.820C → T | Missense | Arg → Trp | p.R274W |
| CSF3R-T595I | NM_000760.3 | g.chr1:36706021G → A | c.1853C → T | Missense | Thr → Ile | p.T595I† |
| CSF3R-d715 | NM_000760.3 | g.chr1:36704841G → A | c.2215C → T | Nonsense | Gln → * | p.Q716*† |
| EP300 | NM_001429.3 | g.chr22:39902447_39902453delTGGAGAC | c.5030_5036delTGGAGAC | Indel frameshift | Frameshift and premature stop | p.V1677Dfs*30 |
| FBXO18 | NM_032807.3 | g.chr10:6003435C → G | c.2372C → G | Missense | Ala → Gly | p.A791G |
| LAMB1 | NM_002291.2 | g.chr7:107387385delG | c.2445delC | Indel frameshift | Frameshift and premature stop | p.P815Pfs*65 |
| LLGL2 | NM_004524.2 | g.chr17:71070826G → C | c.665G → C | Missense | Arg → Pro | p.R222P |
| MGA | NM_001164273.1 | g.chr15:39787311C → T | c.2282C → T | Missense | Pro → Leu | p.P761L |
| RUNX1 | NM_001754.4 | g.chr21:35153662C → T | c.592G → A | Missense | Asp → Asn | p.D198N |
| SUZ12 | NM_015355.2 | g.chr17:27346889_27346891dupATT | c.1789_1791dupATT | Indel | Insertion Ile | p.597dupI |
| ZC3H18 | NM_144604.3 | g.chr16:87192175delC | c.777delC | Indel frameshift | Frameshift and premature stop | p.P259Pfs*15 |
All 12 somatic nonsynonymous mutations identified in the AML phase are listed. For each mutation, Refseq reference transcripts, the position of the mutation on genomic DNA, the cDNA and protein level, the mutation type, and the effect on the protein are indicated. See also supplemental Figures 1-3.
Amino acid numbers based on earlier publications.4,6