Skip to main content

Table 3 Detail information of the selected variants

From: Exome sequencing identified new mutations in a Marfan syndrome family

ID Chr Start End Typea Gene Ref depthb Alt depthb Function prediction
4:1 3:5 4:1 3:5 PROVEAN SIFT Polyphen-2 FATHMM MutationTaster MutationAssessor
1 3 53531321 53531321 C/G CACNA1D 66 89 91 81 -1.894 0.03 Benign -3.74 Disease causing 0.345
2 6 7727522 7727522 -/AGC BMP6 14 8 7 22 -0.67 - - - - -
3 12 57556718 57556718 G/A LRP1 79 70 69 69 -1.693 0.041 Probably damaging -4.26 Disease causing 1.225
4 12 974355 974355 -/C WNK1 75 106 105 78 - - - - - -
5 15 48826326 48826326 G/T FBN1 28 41 26 25 - - - - - -
6 15 100252710 100252715 CAGCAG/- MEF2A 65 57 38 85 1.329 - - - - -
7 18 28648998 28649000 TCC/- DSC2 79 91 61 43 -6.656 - - - - -
  1. aThe first allele is the reference allele.
  2. bDepth of the alleles. The id of each sample is in correspondence with that in Figure 1.
  3. PROVEAN: If the PROVEAN score is < = -2.5, the protein variant is predicted to be deleterious. If the score is above the -2.5, the variant is predicted to be neutral.
  4. SIFT: Ranges from 0 to 1. The amino acid substitution is predicted damaging if the score is < = 0.05, and tolerated if the score is > 0.05.
  5. MutationAssessor: Range from -5.76 to 5.73. The variant is predicted non-functional if the score is < =1.938, and functional if the score is > 1.938.
  6. FATHMM: The variant is predicted damaging if the score is < 0, and tolerated if the score is >0.