Table 1.
Gene mutations in 40 individuals with Noonan syndrome
n | Gene | Exon | Nucleotide Substitution |
Amino Acid Change |
---|---|---|---|---|
1 | PTPN11 | 3 | A>G | N58D |
1 | PTPN11 | 3 | A>G | D61G |
1 | PTPN11 | 3 | G>A | D61N |
1 | PTPN11 | 3 | T>G | Y62D |
3 | PTPN11 | 3 | A>G | Y63C |
1 | PTPN11 | 3 | A>T | E69V |
1 | PTPN11 | 3 | G>T | E76D |
2 | PTPN11 | 3 | A>G | Q79R |
1 | PTPN11 | 3 | A>C | D106A |
1 | PTPN11 | 3 | A>C | N106A |
2 | PTPN11 | 4 | G>C | E139D |
3 | PTPN11 | 7 | A>G | I282V |
1 | PTPN11 | 8 | T>C | F285S |
4 | PTPN11 | 8 | A>G | N308D |
2 | PTPN11 | 8 | A>G | N308S |
1 | PTPN11 | 8 | A>C | N308T |
2 | PTPN11 | 13 | C>T | P491S |
1 | PTPN11 | 13 | G>C | G503R |
3 | PTPN11 | 13 | A>G | M504V |
1 | PTPN11 | 13 | C>G | Q510E |
1 | SOS1 | 6 | C>A | T266K |
2 | SOS1 | 6 | T>G | M269R |
1 | SOS1 | 11 | G>A | C441Y |
1 | SOS1 | 11 | A>C | S548R |
1 | SOS1 | 16 | G>A | E846K |
1 | BRAF | 15 | C>G | L597V |