Fig. 2: Schematic of the GJA8 protein showing the location of variants associated with structural eye disorders. | European Journal of Human Genetics

Fig. 2: Schematic of the GJA8 protein showing the location of variants associated with structural eye disorders.

From: GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

Fig. 2

GJA8 variants are indicated according to their amino acid positions. The functional protein domains are labelled according to Uniprot (entry ID: P48165). Previously published variants associated with developmental eye anomalies are shown above the protein schematic, and missense variants identified in the present study are marked below. The novel variants identified in the present study are indicated in red. NT N-terminal domain, TM transmembrane domain, ECL extracellular loop, ICL intracellular cytoplasmic loop, CT C-terminal domain.

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