Fig. 3: Information on pathogenic GRIN variants identified in the ClinVar database and the SNUH cohort.
From: Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders
a A pie chart illustrating the proportion of GRIN variants categorized by gene type. b The number and proportion of pathogenic variants (PTVs vs. missense or in-frame variants in other domains vs. missense or in-frame variants in the M3–M4 helices). c Genomic locations of pathogenic variants identified in GRIN1, GRIN2A, GRIN2B, and GRIN2D. The blue density plots represent the domain-specific distribution of missense or in-frame variants from the GRIN Portal and the SNUH cohort. Lollipops in the upper row indicate variant information from the SNUH cohort. Lollipops in the bottom row indicate pathogenic/likely pathogenic missense or in-frame variants reported in ClinVar. PTV protein-truncating variant.
