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Table 1 In silico analysis of the HFM1 mutation

From: A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

Gene Mutation Amino acid change Zygosity SIFT score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred MutationTaster_score MutationTaster_pred CADD_phred
HFM1 c.3470G>A G > A Heterozygous 0 D 1 D 0.998 D 1 D 29.7
  1. “D” indicates that the mutation is damaging or deleterious. In SIFT (http://sift.bii.a-star.edu.sg/), mutations with values above 0.05 are predicted to be damaging. In Polyphen-2 (http://genetics.bwh.harvard.edu/pph2), higher scores predict the mutation to be more deleterious. In MutationTaster (http://www.mutationtaster.org/), the probability value ranges from 0 to 1, and a higher score (closer to 1) indicates a stronger prediction of disease. In Combined Annotation Dependent Depletion (CADD) (http://cadd.gs.washington.edu/), the suggested threshold for harmfulness of a single-nucleotide polymorphism (SNP) is a CADD_Phred score > 15