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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.DiagnosisMutationsMutation TasterSIFTPolyphen-2
P070PA/VSDSRF.pG274DDisease-causing0.021.0/0.946
P124TOF/RAASRF.pG294CDisease-causing0.020.999/0.936
  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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