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Fig. 2 | BMC Medical Genetics

Fig. 2

From: The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

Fig. 2

a Chromatograms showing the c.521 T > C (p.Phe174Ser), and the c.724C > T (p.Arg242Cys) mutations. b In silico programs showing the predicted effect of the p.Phe174Ser mutation on the DHCR7. SNP&GO, http://snps-and-go.biocomp.unibo.it/snps-and-go/; Polyphen, http://genetics.bwh.harvard.edu/pph2/; SIFT, http://sift.jcvi.org/; PANTHER, http://www.pantherdb.org/tools/csnpScoreForm.jsp; Mutation Assessor, http://mutationassessor.org/; Mutation t@sting, http://www.mutationtaster.org/ c Amino acid conservation between different species at the position 174 of the DHCR7

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