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. Author manuscript; available in PMC: 2014 Sep 1.
Published in final edited form as: J Invest Dermatol. 2013 Sep 5;134(3):658–665. doi: 10.1038/jid.2013.370

Figure 3. Mutation analysis of the ABCC6 gene in Family A with GACI.

Figure 3

Sequencing of the ABCC6 gene in Patients 1 and 2 (II-3 and II-4 in Figure 1) revealed a homozygous nucleotide T substitution (B) replacing nucleotide C in the control DNA (A). This mutation results in substitution of arginine (R) by tryptophan (W) at amino acid position 1314. The arginine residue is well conserved through evolution (C).