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Fig. 2 | BMC Medical Genetics

Fig. 2

From: SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

Fig. 2

Models of aberrant transcription caused by splice site mutations. Models of exon skipping by c.1076 + 3A > C mutation (a) and c.1772-2A > T mutation (b) are shown. Alternatively, models of intron retention and activation of cryptic splice sites by c.1076 + 3A > C mutation (c) and c.1772-2A > T mutation (d) are shown. Cryptic splice sites are predicted using Splice Site Prediction by Neural Network in Berkeley Drosophila Genome Project. All the four models predict premature stop codons

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BMC Medical Genetics

ISSN: 1471-2350

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