Table 3.
PTPN11 Mutations in NS
| NucleotideSubstitution | No. ofCases | Amino Acid Substitution | Domain |
| Exon 2: | |||
| 124A→G | 2 | Thr42Ala | N-SH2 |
| Exon 3: | |||
| 179G→C | 2 | Gly60Ala | N-SH2 |
| 181G→A | 1 | Asp61Asn | N-SH2 |
| 182A→G | 2 | Asp61Gly | N-SH2 |
| 184T→G | 2 | Tyr62Asp | N-SH2 |
| 188A→G | 4 | Tyr63Cys | N-SH2 |
| 215C→G | 1 | Ala72Gly | N-SH2 |
| 218C→T | 1 | Thr73Ile | N-SH2 |
| 228G→C | 1 | Glu76Asp | N-SH2 |
| 236A→G | 5 | Gln79Arg | N-SH2 |
| 317A→C | 3 | Asp106Ala | N-SH2/C-SH2 linker |
| Exon 4: | |||
| 417G→C | 1 | Glu139Asp | C-SH2 |
| 417G→T | 1 | Glu139Asp | C-SH2 |
| Exon 7: | |||
| 836A→G | 1 | Tyr279Cys | PTP |
| 844A→G | 1 | Ile282Val | PTP |
| 853T→C | 1 | Phe285Leu | PTP |
| Exon 8: | |||
| 854T→C | 1 | Phe285Ser | PTP |
| 922A→G | 17 | Asn308Asp | PTP |
| 923A→Ga | 2 | Asn308Ser | PTP |
| 925A→G | 1 | Ile309Val | PTP |
| Exon 13: | |||
| 1502G→A | 1 | Arg501Lys | PTP |
| 1510A→G | 3 | Met504Val | PTP |
a
Affected members of one family segregating the 923A→G change (Asn308Ser) exhibited the Noonan-like/multiple giant-cell lesion condition.