Fig. 1: Representation of the 673 FANCM rare missense variants (MVs) with respect to the 2048 amino acid long FANCM protein. | European Journal of Human Genetics

Fig. 1: Representation of the 673 FANCM rare missense variants (MVs) with respect to the 2048 amino acid long FANCM protein.

From: FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Fig. 1

Functional and binding domains (MPH1, ATP-dependent DNA helicase; MHF, domain of interaction with the Histone Fold 1 and 2 (MHF1/2); MM1, motif of interaction with FANCF within the Fanconi Anemia core complex; MM2, motif of interaction with RecQ-Mediated genome Instability protein 1 (RMI1); MM3, highly conserved motif of still unknown function; FAAP24, domain of interaction with the Fanconi Anemia core complex-Associated Protein 24) are shown in dark grey and their boundaries indicated. The MVs are shown according to their position, the number of carriers in cases and controls, and by their in silico scores of pathogenicity according to BayesDel, CADD, Helix and REVEL tools; in grey are MVs predicted benign by all the tools; in black, MVs predicted pathogenic by one tool; in blue; MVs predicted pathogenic by two tools; in red, MVs predicted pathogenic by three or four tools.

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