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Fig. 1 | European Journal of Medical Research

Fig. 1

From: Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

Fig. 1

Genetic and protein changes of GFAP. A The pedigree of a family with Alexander disease. The black arrow indicates proband. Affected and unaffected individuals are represented by filled and clean symbols, respectively. B Sanger sequencing results show that a novel de novo variant in the GFAP was found in the proband (III-1) and normal sequence of her parents (II-4/II-5). C Conservation of p.Met73Val variant across various species has been shown. The variant site is highly conserved in various species. D, E Schematic view of GFAP and the position of mutation p.Met73Val

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European Journal of Medical Research

ISSN: 2047-783X

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