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Table 2 Predictions of functional effects for two mutations in this study

From: Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

 

SIFT

Polyphen-2

MutationTaster

M-CAP

PROVEAN

TPM2:c.308A > G(p.Q103R)

Damaging

Benign

Disease causing

Possibly Pathogenic

Deleterious

score

0

0.06

–

0.349

−3.13

PIEZO2:c.8153G > A (p.R2718Q)

Damaging

Probably Damaging

Disease causing

Possibly Pathogenic

Deleterious

score

0

1

–

0.821

−3.35

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BMC Medical Genetics

ISSN: 1471-2350

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