Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Table 1 List of the exome candidate variants identified in the patient MI-1

Gene	Chrom	Position	Ref_Seq	Exon	cDNA	Protein	EVSFreq	dbSNP138	ExAC02_All	ExAC02_Eur	PhyloP	SIFT	PolyPhen2	LRT	MutationTaster	GERP++	CADD
Recessive
COL1A1	chr17	48265471	NM_000088.3	44	c.3247G > A	p.(Ala1083Thr)	7,7E-05	rs372029024	3,277E-05	6,631E-05	1.212	0,09	P	D	D	4,29	14,23
COL1A1	chr17	48274385	NM_000088.3	11	c.790A > T	p.(Met264Leu)	7,7E-05	rs374947065	8,132E-06	1,477E-05	1.952	0,58	B	D	D	5,19	11,54
EXPH5	chr11	108382912	NM_001144763.1	6	c.3094A > T	p.(Thr1032Ser)	0		1,627E-05	2,967E-05	0,065	0,27	B	N	N	1,75	10,15
EXPH5	chr11	108382329	NM_001144763.1	6	c.3677C > G	p.(Thr1226Arg)	0		8,132E-06	1,481E-05	0,372	0,27	B	N	N	2,91	10,69
X-Rec.
AR	chrX	66766013	NM_000044.2	1	c.1025C > T	p.(Pro342Leu)	0		0	0	2.317	0,18	D	N	D	4,09	14,24
IL1RAPL2	chrX	104440391	NM_017416.1	3	c.317C > T	p.(Ala106Val)	0,002461	rs144175494	0,001008	0,0017	1.081	0,48	B	N	D	3,35	14,42
De Novo
FMNL2	chr2	153473665	NM_052905.3	13	c.1273A > G	p.(Lys425Glu)	0		0	0	2.231	0,6	D	D	N	5,04	25,2

Main candidate variants are evidenced in bold. Chrom Chromosome, EVSFreq Exome Variant Server frequency (NHLBI Exome sequencing Project, ESP), ExAC02 ExAC Browser (Beta), Exome Aggregation Consortium, Eur European
P probably damaging, B benign, N neutral, D damaging

ISSN: 1750-1172