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Fig. 2 | Human Genomics

Fig. 2

From: FGFR1 variants contributed to families with tooth agenesis

Fig. 2

a Flow chart outlining selection of the causative variant. b Schematic diagram of the gene location of the damaging allele. c Sanger sequencing of the heterozygous c.103G > A (I:2 and II:1) and wildtype (I:1) alleles in the FGFR1 gene. Red dotted frames indicate the positions of causative variants. d Conservation of each amino acid residue across species is shown. The red arrow indicates the mutated amino acid. Glycine at position 35 is conserved. e Sanger sequencing of the heterozygous c.1859G > A (II:5 and III:3) and wildtype (II:6 and III:4) alleles in the FGFR1 gene. Red dotted frame indicates the position of causative variants

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