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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