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Fig. 1 | BMC Bioinformatics

Fig. 1

From: Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

Fig. 1

Identification and classification of novel pathogenic FIP variants in RTEL1. a The locations of known pathogenic (red), putatively neutral 1000 Genomes (blue), and FIP VUS (yellow) missense variants are plotted in the context of the RTEL1 protein sequence and known domains. b The locations of pathogenic, putatively neutral, and candidate variants in the RTEL1 N-terminal structural model. c Leave-one-out cross validation of the pathogenic proximity score applied to characterized RTEL1 variants yielded an improved area under the ROC curve (AUC) relative to PolyPhen2 and SIFT, but was outperformed by evolutionary conservation scores. These results demonstrate that considering the 3D spatial distribution of known pathogenic and neutral variants can identify pathogenic hotspots and assist in the classification of VUS

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