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Table 2 Features of identified PTPN11 variants in Noonan population

From: Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

Variant IDNucleotide variantsAmino acid variantsExon/intronVariant typesPatients
rs121918461c.182A>GD61GExon 3MissenseP10, P11
rs121918459c.188A>GY63CExon 3MissenseP5
rs121918453c.214 G>TA72SExon 3MissenseP28
rs61736914c.255C>TH85=Exon 3SynonymousP28
Novelc.525+121_525+132dupIntron 4Non-coding duplicationP24
Novelc.525+125_525+132dupIntron 4Non-coding duplicationP21
Novelc.525+129_525+132dupIntron 4Non-coding duplicationP2, P31
rs41279090c.854-21C>TIntron 7Non-coding substitutionP7, P13, P15, P23, P27
rs121918455c.923A>GN308SExon 8MissenseP8