Table 1.
PTPN11 mutations in 77 newly reported children with JMML or NS/MPD
| Cohort, no. cases | Nucleotide substitution | Amino acid substitution |
|---|---|---|
| JMML, N = 69 | ||
| 1 | 155C > G* | Thr52Ser |
| 1 | 178G > C | Gly60Arg |
| 9 | 179G > T | Gly60Val |
| 6 | 181G > T | Asp61Tyr |
| 6 | 182A > T | Asp61Val |
| 1 | 182A > G | Asp61Gly |
| 5 | 214G > A | Ala72Thr |
| 4 | 215C > T | Ala72Val |
| 20 | 226G > A | Glu76Lys |
| 6 | 227A > G | Glu76Gly |
| 1 | 226-227GA > AT* | Glu76Met |
| 5 | 1508G > C | Gly503Ala |
| 4 | 1508G > T | Gly503Val |
| NS/MPD, N = 8 | ||
| 2 | 182A > G | Asp61Gly |
| 1 | 215C > G | Ala72Gly |
| 2 | 218C > T | Thr73lle |
| 1 | 1492C > T | Arg498Trp |
| 1 | 1504T > G* | Ser502Ala |
| 1 | 1517A > C | Gly506Pro |
*
Novel mutation.