Fig. 1
From: A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
Production of a CBS variant effect map. a Workflow for generating the CBS variant effect maps using low or high levels of vitamin B6 and inferring total enzyme activities for patients. b, c Distributions of experimentally determined fitness scores of stop codon, synonymous, and missense variants with low (b) or high (c) levels of vitamin B6. d Comparison of the distribution of delta scores for missense variants with the null distribution (delta scores for nonsense and synonymous variants)