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 | 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 |