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Table 1 Pathogenicity predictions for RTEL1 missense VUS from FIP patients

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

Pos Ref Alt Telomere % Segregation PPH2 SIFT ConSurf PathProx Model
55 T S 3% Seg 0.00 1.00 −0.56 −0.02 N-terminal
516 V L 1% Seg 0.05 0.62 −0.15 0.41 N-terminal
540 S A 2% Seg 0.57 0.09 −0.80 0.21 N-terminal
559 F I 6% Seg 1.00 0.00 −1.11 0.44 N-terminal
688 S C 1% Seg 0.91 0.14 −0.62 0.27 N-terminal
719 D G 8% Seg 0.03 0.22 0.21 0.05 N-terminal
512 W C Unknown Unknown 0.17 0.48 0.31 0.47 N-terminal
161 H Q Unknown NonSeg 0.40 0.16 −0.35 −0.13 N-terminal
397 Q E 94% NonSeg 0.08 0.20 0.40 −0.09 N-terminal
528 A E 58% Unknown 0.62 0.05 −0.75 0.08 N-terminal
574 R W 45% NonSeg 0.95 0.00 −0.53 0.07 N-terminal
1107 P L 6% NonSeg 0.63 0.01   −0.13 C-terminal
1110 F L Unknown NonSeg 0 1   −0.17 C-terminal
  1. Variants are grouped by evidence for pathogenicity, which is inferred from disease co-segregation and patient telomere lengths. Variants that segregate with disease and short telomeres are treated as pathogenic (Additional file 1: Figure S1). Scores in bold indicate deleterious predictions. All thresholds were applied as recommended by each method