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Fig. 1 | Molecular Autism

Fig. 1

From: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Fig. 1

Genetic variants affecting SHANK3 in 401 PMS patients included in the study. Each line represents a patient; deletions are shown in red and SHANK3 sequence variants in blue. For simplicity, sequence variants are represented as overlapping the whole gene. SHANK3 is indicated by an arrow. Chromosomal coordinates are based on the GRCh38 genome build. Constrained genes intolerant to loss-of-function variants as measured by the LOEUF (loss-of-function observed/expected upper bound fraction) metric from gnomAD (v2.1.1) are indicated in orange (LOEUF < 0.2 darker orange, < 0.3 lighter orange; smaller LOEUF indicates higher constraint)

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Molecular Autism

ISSN: 2040-2392