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Fig. 2 | BMC Pediatrics

Fig. 2

From: Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report

Fig. 2

Identification of de novo variant in GRIA2 gene. A The pedigree of this family. The affected subject is indicated by a filled symbol with an arrow. B Sanger sequencing of GRIA2 in the trio family. The c.2308G > A was found and confirmed in proband indicated by the red box. C Conservation of A770 across multiple species. The targeted residues were highlighted with red (wild-type) and green (mutated) boxes. D Schematic representation of GRIA2 variants. Missense variants are marked at the top of the diagram, splice and truncated variants are below. Three domains are shown in protein: ANF receptor (41-381aa, receptor family ligand binding region), Lig chan-Glu bd (414-529aa, ligated ion channel L glutamate, and glycine-binding site), Lig chain (543-824aa, ligand-gated ion channel)

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