Fig. 1: NF1 variants identified in the present study. | Nature Communications

Fig. 1: NF1 variants identified in the present study.

From: A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Fig. 1

The NF1 variants identified in (A) the PMBB dataset and (B) the Ambry dataset are displayed along a schematic of the NF1 protein. In each case, NF1 variants identified in the Clinical-NF1 group are indicated along the top of the protein schematic, whereas those identified in the PV-Only group are indicated along the bottom. Variants labeled with an asterisk were identified in both Clinical-NF1 and PV-Only individuals within each dataset. Variants are color-coded by predicted protein effect, with the height of each line segment corresponds to the number of individuals in which the indicated variant was identified. Large deletions and duplications are indicated by red and blue bars, respectively. Amino acid position, based on NP_001035957, are indicated along the protein schematic. NF1 protein domains are indicated, as follows: CSRD Cysteine-and-Serine-Rich Domain, TBD Tubulin-Binding Domain, GRD GAP-Related Domain, Sec Sec14 Homologous Domain, PH Pleckstrin Homologous Domain, CTD C-terminal Domain, NLS Nuclear Localization Signal.

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