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Table 2 PTPN11 pathogenic variantsa and their numbers observed in our study

From: Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Exon numberPositive sample numberVariation seenNumber of times observedAmino acid change
Exon 23c.124 A > G3p.Thr42Ala
Exon 338c.172A > G3p.Asn58Asp
  c.174 C > G1p.Asn58Lys
  c.179 G > C4p.Gly60Ala
  c.181 G > A4p.Asp61Asn
  c.188 A > G3p.Try63Cys
  c.182 A > G7p.Asp61Gly
  c.184 T > G1p.Tyr62Asp
  c.205 G > C1p.Glu69Gln
  c.211 T > C1p.Phe71Lue
  c.214 G > T2p.Ala72Ser
  c.215 C > G2p.Ala72Gly
  c.218 C > T2p.Thr73Ile
  c.236 A > G6p.Gln79Arg
  c.317 A > C1p.Asp106Ala
Exon44c.417 G > C3p.Glu139Asp
  c.455G > A1p.Arg152His
Exon77c. 767 A > G2p.Gln256Arg
  c.802 G > A1p.Gly268Ser
  c.836 A > G4p.Tyr279Cys
Exon828c.854 T > C4p.Phe285Ser
  c.922A > Gb12p.Asn308Asp
  c.923 A > Gb10p.Asn308Ser
  c.855 T > G2p.Phe285Leu
Exon 92c.1052 G > A2p.Arg351Gln
Exon 126c.1403C > T6p.Thr468Met
Exon 1319c.1504 T > A5p.Ser502Thr
  c.1505 C > T3p.Ser502Leu
  c.1507 G > A3p.Gly503Arg
  c. 1510 A > G5p.Met504Val
  c.1517 A > C1p.Gln506Pro
  c.1528 C > G2p.Gln510Glu
  1. aIn the current study 32 different PTPN11 pathogenic variations were observed
  2. bThe 2 most common variations observed affecting the same amino acid residue