Fig. 6: Rare loss of function and predicted pathogenic variants in proteins associated with FTLD. | Nature Communications

Fig. 6: Rare loss of function and predicted pathogenic variants in proteins associated with FTLD.

From: Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Fig. 6

Schematic representation of C3AR1, SMG8, VIPR1, L3MBTL1, and RBPL protein structure (source Uniprot) showing a map of nonsense, splicing, frameshift, and missense rare variants with a REVEL score > 0.75 in patients and controls. Variants identified in patients are colored in orange, and variants identified in controls are colored in blue. n = number of carriers. When no number is indicated, the variant was observed in a single individual. Total number of subjects included in the analyzes was FTLD-TDP A (n = 193), FTLD-TDP B (n = 288), FTLD-TDP C (n = 467), and FTLD-TDP C* (n = 199), and controls (n = 3153).

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