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Table 3 Function prediction of the SRF mutants (SRF: NP_003122.1)

From: Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients

Patient No.

Diagnosis

Mutations

Mutation Taster

SIFT

Polyphen-2

P070

PA/VSD

SRF.pG274D

Disease-causing

0.02

1.0/0.946

P124

TOF/RAA

SRF.pG294C

Disease-causing

0.02

0.999/0.936

  1. Note. 1 A SIFT score < 0.05 means damage, and a Polyphen-2 score > 0.85 (HumDiv/HumVar) means damage, according to the descriptions of the two web-based tools
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BMC Medical Genetics

ISSN: 1471-2350

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