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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.