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Table 5 Novel intronic variants

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

Nucleotide change

Intron

Predicted pathology

No. of alleles

c.1328 + 52T > C

IVS7

-

3

c.1841-61G > A

IVS10

-

11

c.4627 + 32G > T

IVS21

UV2

1

c.6485 + 18C > T

IVS33

UV2

1

c.6486-54T > C

IVS33

UV2

2

c.6486-43T > A

IVS33

UV2

1

c.6657 + 29C > A

IVS34

UV2

1

c.8681 + 18A > G

IVS43

UV2

1

c.8681 + 53T > G

IVS43

UV2

1

c.8681 + 118A > G

IVS43

UV2

1

c.9056-52G > T

IVS45

UV

1

c.9372-50A > G

IVS47

UV2

1

c.9740-59G > A

IVS49

UV2

1

c.9958 + 128A > G

IVS50

-

4

c.10388-123T > C

IVS52

UV2

1

c.13812-78A > G

IVS63

UV2

1

c.14134-53T > C

IVS64

UV2

1

c.14343 + 36G > C

IVS65

UV2

1

c.15298-35T > A

IVS70

UV2

1

c.15298-1153G > A(g.798209G > A) d

IVS71

UV2

1

  1. UV2: probably non- pathogenic mutations; - : neutral variants.
  2. No. of alleles: Number of alleles identified in patients.
  3. dThe intronic variant g.798209G > A affects the last nucleotide of the cochlea specific exon 71. g.DNA numbering starts at nucleotide position 1 in Human Refseq: NG_009497.1 GI:222352133, which represents the minus (-) strand of USH2A.