Table 2 Features of identified PTPN11 variants in Noonan population
Variant ID | Nucleotide variants | Amino acid variants | Exon/intron | Variant types | Patients |
|---|---|---|---|---|---|
rs121918461 | c.182A>G | D61G | Exon 3 | Missense | P10, P11 |
rs121918459 | c.188A>G | Y63C | Exon 3 | Missense | P5 |
rs121918453 | c.214 G>T | A72S | Exon 3 | Missense | P28 |
rs61736914 | c.255C>T | H85= | Exon 3 | Synonymous | P28 |
Novel | c.525+121_525+132dup | – | Intron 4 | Non-coding duplication | P24 |
Novel | c.525+125_525+132dup | – | Intron 4 | Non-coding duplication | P21 |
Novel | c.525+129_525+132dup | – | Intron 4 | Non-coding duplication | P2, P31 |
rs41279090 | c.854-21C>T | – | Intron 7 | Non-coding substitution | P7, P13, P15, P23, P27 |
rs121918455 | c.923A>G | N308S | Exon 8 | Missense | P8 |