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. Author manuscript; available in PMC: 2010 Apr 1.
Published in final edited form as: Genes Brain Behav. 2008 Dec 11;8(3):275–282. doi: 10.1111/j.1601-183X.2008.00469.x

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
HHS Vulnerability Disclosure