Exome sequencing identified new mutations in a Marfan syndrome family

Diagnostic Pathology

Table 3 Detail information of the selected variants

ID	Chr	Start	End	Type^a	Gene	Ref depth^b		Alt depth^b		Function prediction
ID	Chr	Start	End	Type^a	Gene	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	-	-	-	-	-

^aThe first allele is the reference allele.
^bDepth of the alleles. The id of each sample is in correspondence with that in Figure 1.
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.
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.
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.
FATHMM: The variant is predicted damaging if the score is < 0, and tolerated if the score is >0.

ISSN: 1746-1596