Fig. 2: Analysis of rare pathogenic variants in SPG7. | Nature Communications

Fig. 2: Analysis of rare pathogenic variants in SPG7.

From: A multi-ancestry genetic reference for the Quebec population

Fig. 2: Analysis of rare pathogenic variants in SPG7.

Structure of the SPG7 gene, highlighting its main three domains and the location of nine variants found in the CaG cohort. For each variant, amino acid/nucleotide change, allele count (AC), frequency in Quebec residents of French-Canadian ancestry (QFC), Morocco-born grandparents (QMO) and estimated mutation age (TMRCA) are displayed. The heatmaps show the carrier frequency of three SPG7 variants computed with ISGen in 24 historical regions of Quebec. The scale is given in number of carriers per 1000 individuals. Each variant has a different frequency distribution across Quebec. Highest frequency regions for each variant are highlighted: C.988-1 G > A (Saguenay and Charlevoix), p.Gly349Ser (Côte-de-Beaupré and Portneuf) and p.Asp765Asn (Bas-Saint-Laurent and Côte-du-Sud). Maps in Fig. 2 were created using the geopandas package in Python 3.12 (https://zenodo.org/records/3946761).

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