PTPN11 mutations detected in JMML
Nucleotide . | Substitution . | Amino acid . | No. cases . |
|---|---|---|---|
| 178 | G>C | Gly60Arg | 1 |
| 181 | G>T | Asp61Tyr | 1 |
| G>A | Asp61Asn | 1 | |
| 205 | G>A | Glu69Lys | 1 |
| 214 | G>A | Ala72Thr | 2 |
| 215 | C>T | Ala72Val | 2 |
| 218 | C>T | Thr73Ile | 1 (JMML/NS) |
| 226 | G>A | Glu76Lys | 3 |
| G>C | Glu76Gln | 1 | |
| 227 | A>G | Glu76Gly | 3 |
| 417 | G>C | Glu139Asp | 1 |
| 1517 | A>C | Gly506Pro | 1 (JMML/NS) |
Nucleotide . | Substitution . | Amino acid . | No. cases . |
|---|---|---|---|
| 178 | G>C | Gly60Arg | 1 |
| 181 | G>T | Asp61Tyr | 1 |
| G>A | Asp61Asn | 1 | |
| 205 | G>A | Glu69Lys | 1 |
| 214 | G>A | Ala72Thr | 2 |
| 215 | C>T | Ala72Val | 2 |
| 218 | C>T | Thr73Ile | 1 (JMML/NS) |
| 226 | G>A | Glu76Lys | 3 |
| G>C | Glu76Gln | 1 | |
| 227 | A>G | Glu76Gly | 3 |
| 417 | G>C | Glu139Asp | 1 |
| 1517 | A>C | Gly506Pro | 1 (JMML/NS) |