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. Author manuscript; available in PMC: 2022 Nov 25.
Published in final edited form as: Nature. 2022 Jul 13;609(7926):408–415. doi: 10.1038/s41586-022-04928-2

Figure 4: Structure-function analysis identifies disease-associated mutations.

Figure 4:

a. Clinical missense mutations of SHOC2 complex members in Noonan-like Syndrome (NL-S) (ClinVar) and cancer (COSMIC database) with interface mutant alleles annotated. Lollipop size of interface mutants is proportional to DMS scaled LFC. b-c. Dynamic change in interaction surface between SHOC2 and PP1C in WT and novel NL-S (SHOC2 T411A) (b) or cancer associated mutations (SHOC2 Q249K) (c). d. Modeling of anticipated GOF G63R SHOC2 mutant. e. Contact surface energy of SHOC2 complex for novel functional pathogenic variants SHOC2 T411A, Q249K, and G63R, as predicted by Amber10 force field-based energy calculation.