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Table 1 Predicted effect of TRPV3 mutations

From: Olmsted syndrome: exploration of the immunological phenotype

Mutation Phenotype Polyphen-2 SIFT
G573A Olmsted (this study) 0.775 (sensitivity: 0.85, specificity: 0.92) 0.01
G573C Olmsted [2] 0.995 (sensitivity: 0.68, specificity: 0.97) 0.00
G573D Unknown 0.924 (sensitivity: 0.81, specificity: 0.94) 0.00
G573E Unknown 0.941 (sensitivity: 0.80, specificity: 0.94) 0.00
G573F Unknown 0.996 (sensitivity: 0.55, specificity: 0.98) 0.00
G573 Native allele NA NA
G573H Unknown 0.996 (sensitivity: 0.55, specificity: 0.98) 0.00
G573I Unknown 0.992 (sensitivity: 0.70, specificity: 0.97) 0.00
G573K Unknown 0.941 (sensitivity: 0.80, specificity: 0.94) 0.00
G573L Unknown 0.970 (sensitivity: 0.77, specificity: 0.96) 0.00
G573M Unknown 0.999 (sensitivity: 0.14, specificity: 0.99) 0.00
G573N Unknown 0.941 (sensitivity: 0.80, specificity: 0.94) 0.00
G573P Unknown 0.970 (sensitivity: 0.77, specificity: 0.96) 0.00
G573Q Unknown 0.992 (sensitivity: 0.70, specificity: 0.97) 0.00
G573R Unknown 0.960 (sensitivity: 0.78, specificity: 0.95) 0.00
G573S Olmsted [2, 13] 0.048 (sensitivity: 0.94, specificity: 0.83) 0.05
G573T Unknown 0.941 (sensitivity: 0.80, specificity: 0.94) 0.00
G573V Unknown 0.960 (sensitivity: 0.78, specificity: 0.95) 0.00
G573W Unknown 0.999 (sensitivity: 0.14, specificity: 0.99) 0.00
G573Y Unknown 0.996 (sensitivity: 0.55, specificity: 0.98) 0.00
W692G Olmsted [2] 0.999 (sensitivity: 0.14, specificity: 0.99) 0.00