Fig 1: (A) Three TMCO1 SNPs fall within a predicted TBX5 binding motif. (B) EMSA result for variants rs4657475, rs116461237 and rs61058666. Lane 1, Nppa promoter is known to bind to TBX5. Lane 2, wildtype SNP sequence forms complex with TBX5. Lanes 4–7, SNP rs116461237 variant disrupts TBX5 binding. Lanes 8–9, TBX5 does not form DNA-protein complex with Alu consensus sequence. Lanes 10–12, mutation of rs116461237 only disrupts TBX5-probe complex formation. Lanes 3, 7 and 9 contain cold competitor in addition to probe sequence. SNP, single nucleotide polymorphism.