Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

Table 2 Prediction of the pathogenicity of SRD5A2 p.H232R mutation

Gene	Nucleotide substitution	Amino acid substitution	Software
Gene	Nucleotide substitution	Amino acid substitution	Polyphen2	SIFT	PROVEAN
SRD5A2	c.695A > G	p.H232R	1	0.007		− 7.330

The pathogenicity score of each software tool is presented. PolyPhen2 software begins with a score of 0.0. Scores in the range of 0.447–0.909 indicate possibly damaging, while scores of 0.910–1.000 are probably damaging. SIFT score < 0.05 was considered to indicate that the mutation affects protein function and ≥ 0.05 was considered to indicate that it was tolerated. The PROVEAN score threshold was − 2.5, with a deleterious effect being considered with a score of ≤ − 2.5 and a neutral effect with a score of > − 2.5

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