Table 3. Resultant variants and dbNSFP scores after bioinformatic filtering in AD-FDC1.

Gene	Seg. within family	Chr.	Position	Exon	NM #	Variant	AminoAcid	SIFTscore	Polyphen 2HDIV score	Polyphen2HVAR score	LRTscore	MutationTaster score
DUOX2	no	15	45,386,870	33	14080	c. 4415 T>G	F1472C	0.01	1	0.998	0	0.999883
DDIT4L	no	4	101108877	3	145244	c. 539 delA	K180fs	n/a	n/a	n/a	n/a	n/a
MAPKBP1	no	15	42,105,214	8	14994	c. 734 C>T	A245V	0	1.0–0.933	0.975–0.448	0.000014	0.919339
TNNT2	yes	1	201,332,477	11	364	c. 517 C>T	R173W	0	1.0–1.0	0.994–0.992	0.000001	0.996697
UBLCP1	no	5	158,710,251	10	145049	c. 833 G>A	R278H	0.01	0.954	0.498	0	0.999844
USP53	no	4	120,169,945	6	19050	c. 280 C>G	P94A	0.11	1	0.999	0.000002	0.509941

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.