Mutation characteristics and cancer outcome in DS neonates with GATA1-mutations
| Patient . | Mutation* . | Protein . | Cancer registry match . |
|---|---|---|---|
| Mutations within exon 2 predicted to generate the GATA1s isoform | |||
| 1 | c.−25_3del | No initiation codon | No |
| 2 | c.30_31dupG | Frameshift | No |
| 3 | c.38_39delAG | Frameshift | No |
| 4 | c38_39delAG | Frameshift | No |
| 5 | c.49C>T | Stop codon | No |
| 6 | c.90_91delAG | Frameshift | No |
| 7 | c.158_159insAGCTG | Frameshift | No |
| 7 | c.170_171insTGCGCAGC | Frameshift | No |
| 8 | [c.160_161insCCGTGCT; c.165T>C] | Frameshift | No |
| 9 | c.[162_172dup; 173_174insTGGC] | Frameshift | No |
| 10 | c.[163_174dup; 174_175insTG] | Frameshift | Unspecified leukemia |
| 11 | c.164_177dup | Frameshift | No |
| 12 | c.166_167insCAGCGCTG | Frameshift | No |
| 13 | c.166_167insCAGCGCTG | Frameshift | No |
| 14 | c.166_185dup | Stop codon | No |
| 15 | c.173_174insACTGTAGTA | Stop codon | No |
| 16 | c.177_178insCTGGGGCA | Frameshift | No |
| 17 | c.182_195dup | Frameshift | No |
| 18 | c.187_205delins18 | Frameshift | No |
| 19 | c.212_220+41del | Altered splicing | No |
| 20 | c.216_220+2del | Altered splicing | No |
| Mutations exclusive to intron 1 predicted to alter splicing of exon 2 to generate the GATA1s isoform | |||
| 21 | c.−20G>A | Altered splicing | No |
| 22 | c.−30T>A | Altered splicing | AMKL |
| Mutations not predicted to alter the GATA1 protein structure | |||
| 23 | c.−68T>G | SNP: rs12849226 | No |
| 24 | c.−8dupG | No altered splicing | No |
| 25 | c.−8_−6dup | No altered splicing | No |
| 26 | c.174G>A | Ala-Ala, not a known SNP | No |
| 27 | c.201G>A | Glu-Glu, not a known SNP | No |
| 28 | c.201G>A | Glu-Glu, not a known SNP | No |
| Patient . | Mutation* . | Protein . | Cancer registry match . |
|---|---|---|---|
| Mutations within exon 2 predicted to generate the GATA1s isoform | |||
| 1 | c.−25_3del | No initiation codon | No |
| 2 | c.30_31dupG | Frameshift | No |
| 3 | c.38_39delAG | Frameshift | No |
| 4 | c38_39delAG | Frameshift | No |
| 5 | c.49C>T | Stop codon | No |
| 6 | c.90_91delAG | Frameshift | No |
| 7 | c.158_159insAGCTG | Frameshift | No |
| 7 | c.170_171insTGCGCAGC | Frameshift | No |
| 8 | [c.160_161insCCGTGCT; c.165T>C] | Frameshift | No |
| 9 | c.[162_172dup; 173_174insTGGC] | Frameshift | No |
| 10 | c.[163_174dup; 174_175insTG] | Frameshift | Unspecified leukemia |
| 11 | c.164_177dup | Frameshift | No |
| 12 | c.166_167insCAGCGCTG | Frameshift | No |
| 13 | c.166_167insCAGCGCTG | Frameshift | No |
| 14 | c.166_185dup | Stop codon | No |
| 15 | c.173_174insACTGTAGTA | Stop codon | No |
| 16 | c.177_178insCTGGGGCA | Frameshift | No |
| 17 | c.182_195dup | Frameshift | No |
| 18 | c.187_205delins18 | Frameshift | No |
| 19 | c.212_220+41del | Altered splicing | No |
| 20 | c.216_220+2del | Altered splicing | No |
| Mutations exclusive to intron 1 predicted to alter splicing of exon 2 to generate the GATA1s isoform | |||
| 21 | c.−20G>A | Altered splicing | No |
| 22 | c.−30T>A | Altered splicing | AMKL |
| Mutations not predicted to alter the GATA1 protein structure | |||
| 23 | c.−68T>G | SNP: rs12849226 | No |
| 24 | c.−8dupG | No altered splicing | No |
| 25 | c.−8_−6dup | No altered splicing | No |
| 26 | c.174G>A | Ala-Ala, not a known SNP | No |
| 27 | c.201G>A | Glu-Glu, not a known SNP | No |
| 28 | c.201G>A | Glu-Glu, not a known SNP | No |
Following the HGVS mutation nomenclature guidelines.20