Fig. 2: Distribution of the identified NF1 germline pathogenic variants. | Human Genome Variation

Fig. 2: Distribution of the identified NF1 germline pathogenic variants.

From: Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study

Fig. 2

a Schematic structure of NF1 showing the locations of the identified variants. The RasGAP and CRAL-TRIO domains are shown in the diagonal line and dotted line boxes, respectively. The number of amino acids (aa 1–2818) is shown in the box. Amino acid numbers for each region/domain were obtained from InterPro (https://www.ebi.ac.uk/interpro/). There were no specific hotspots within NF1. b Pie chart illustrating the frequency of each variant type. Large deletions (n = 3, 8.3%), frameshift variants (n = 8, 22.2%), nonsense variants (n = 16, 44.5%), splice variants (n = 7, 19.4%), and missense variants (n = 2, 5.6%) are depicted. c Pie chart showing the novelty of the identified variants. Analysis of the variants revealed that 20.7% (6/29) were novel variants. The remaining 79.3% (23/29) were variants previously reported in individuals with NF1 or included in public databases (ClinVar, LOVD).

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