Resultant variants and dbNSFP scores after bioinformatic filtering in AD-FDC1.

Shown are the six genes containing exome-detected variants present in all three subjects tested. The Genebank NM number, chromosome and nucleotide position are shown along with the predicted consequence of each variant. Only the TNNT2 variant segregates with the disease phenotype in AD-FDC1. SIFT, Polyphen2, LRT, and MutationTaster scores derived from dbNSFP are presented. SIFT scores less than 0.05 are predicted to be damaging, otherwise they are predicted to be tolerated. Polyphen2_HDIV_scores range from 0 to 1. Scores in the range of 0.957 to 1 are predicted to be possibly damaging and those in the range of 0.453 to 0.956 are predicted to be benign. Polyphen2_HVAR_scores range from 0 to 1. Scores in the range of 0.909 to1 are predicted to be possibly damaging and scores in the range of 0.447 to 0.908 are predicted to be benign. Lower LRT p-values correspond to predictions that are more damaging. A MutationTaster value close to 1 indicates a high ‘security’ of the prediction.