Extended Data Fig. 3: Estimate of protein impact for the least disruptive of the diagnostic variants for BBS cases and non-BBS recessive individuals, with at least one missense change in the primary locus. | Nature Genetics

Extended Data Fig. 3: Estimate of protein impact for the least disruptive of the diagnostic variants for BBS cases and non-BBS recessive individuals, with at least one missense change in the primary locus.

From: Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Extended Data Fig. 3

With high BLOSUM62 scores denoting biochemically similar amino acid changes and lower scores marking radical amino acid changes, the graph shows evidence for bona fide BBS cases harboring more disruptive variants.

Back to article page