Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Table 3 Silent variants in USH2A

Nucleotide change	Exon	Amino acid position	Predicted pathology	No. of alleles	Ref.
c.504A > G	3	p.T168T	-	75	Baux et al., 2008
c.1179A > G	7	p.Q393Q	-	1	Aller, 2008
c.1419C > T	8	p.T473T	-	36	Dreyer et al., 2000
c.2109T > C	12	p.D703D	-	7	Weston et al., 2000
c.2256T > C	13	p.H752H	-	3	Dreyer et al., 2008
c.3945T > C	18	p.N1315N	UV2	3	Present Study
c.4371G > A	20	p.S1457S	-	1	Dreyer et al., 2000
c.5031C > A	25	p.G1671G	-	22	Aller et al., 2006
c.5751C > T	28	p.Y1917Y	UV2	1	McGee et al., 2010
c.7488A > G	40	p.E2496E ^b	+	1	Present Study
c.7506G > A	40	p.P2502P	-	11	McGee et al., 2010
c.11736G > A	61	p.E3912E	-	2	Dreyer et al., 2008
c.11907A > T	61	p.P3969P	-	2	Dreyer et al., 2008
c.11946A > T	61	p.L3982L	-	29	Dreyer et al., 2008
c.12093C > T	62	p.Y4031Y	-	1	Dreyer et al., 2008
c.12612A > G	63	p.T4204T	-	129	Dreyer et al., 2008
c.12666A > G	63	p.T4222T	-	58	Dreyer et al., 2008
c.13191G > A	63	p.E4397E	-	23	Dreyer et al., 2008
c.14481C > T	66	p.A4827A	-	1	McGee et al., 2010
c.14664G > A	67	p.T4888T	UV2	1	Present Study

+: Denotes pathogenic mutations; UV2: probably non- pathogenic mutations; - : neutral variants.
No. of alleles: Number of alleles identified in patients.
^bThese variant may alter normal splicing.
^cPatient with this change also has two other clearly pathogenic mutations in USH2A.
Novel pathogenic mutations described in this study are in bold.

ISSN: 1750-1172