FIGURE

Fig. 3

ID

ZDB-FIG-221212-19

Publication

Motta et al., 2021 - SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

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Fig. 3

Structural impact of the p.Leu100Pro substitution in SPRED2

(A) The crystallographic complex of neurofibromin (NF1) GRD (GAPc, magenta) with the EVH1 domain of SPRED1 (blue) and GTP-bound KRAS (gray) is shown. The N- and C-terminal GAPex stretches encompassing GAPc are shown in green. The lateral chain of Leu¹⁰¹ (L101) (corresponding to Leu¹⁰⁰ in SPRED2) is shown (orange).

(B) Surface visualization (Gaussian density surface) of the hydrophobic residues close to Leu¹⁰¹ (i.e., Ala¹⁹, Val²¹, Val⁴², Trp⁹², Phe¹⁰³, and Phe¹¹²) is shown in yellow. Lateral chains of Leu¹⁰¹ and adjacent residues, Gly¹⁰⁰ (G100) and Thr¹⁰² (T102), mutated in LGSS, are shown.

(C) Enlarged view of the neurofibromin and SPRED1 interacting surfaces. Relevant residues are indicated using the single-letter amino acid code. Lateral chains of SPRED1 residues (Arg²⁴, Gly³⁰, Trp³¹, Val⁴⁴, Gly⁶², Thr⁸⁸, Trp⁹², Gly¹⁰⁰, and Thr¹⁰²) mutated in LGSS are shown (yellow), together with Leu¹⁰¹ (orange). Of note, Thr¹⁰² interacts with both GAPc (Leu¹²⁵²) and GAPex (Met¹²¹⁵).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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