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. 2018 Jun 29;29(8):2244–2254. doi: 10.1681/ASN.2018030228

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Copyright © 2018 by the American Society of Nephrology

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Figure 1. — Mutations and their consequences (the same figures are shown in Supplemental Figure 2 with larger scales). Upper panels show schemas of aberrant splicing (red lines). Normal splicing is indicated by black lines. The original and new splice sites and flanking sequences are shown below. Patients’ flanking genomic DNA and cDNA sequences are shown in the lower panels. (A) Patient ID A196. IVS23–1 G>A eliminated the splice acceptor site of intron 23 to activate a new splice site, one nucleotide downstream. (B) Patient ID A333. IVS49+1 G>A disrupted the splicing donor site of intron 49, resulting in an intron 49 insertion, which creates a transcript with a 345-bp insertion. (C) Patient ID A424. IVS 6–1 G>A altered the splice acceptor site of intron 6 one nucleotide downstream, which creates a transcript with a 1-bp deletion. (D) Patient ID A231, A258, A298. IVS35–4 A>G altered the splice acceptor site of intron 35 three nucleotides upstream, which creates a transcript with a 3-bp insertion. (E) Patient ID A247. IVS 12+5 G>A disrupted the splice donor site of intron 12, resulting in exon 12 skipping, which creates a transcript with a 42-bp deletion. (F) Patient ID A299. IVS29+3 A>G disrupted the splice donor site of intron 29, resulting in exon 29 skipping, which creates a transcript with a 151-bp deletion. (G) Patient ID A323. IVS40–9 C>G altered the splice acceptor site of intron 40 nine nucleotides upstream, which creates a transcript with a 9-bp insertion. (H) Patient ID A371. IVS 18+3_6 del AAGT disrupted the splice donor site of intron 18, resulting in exon 18 skipping, which creates a transcript with a 42-bp deletion. (I) Patient ID A384. IVS48–11A>G altered the splice acceptor site of intron 48 ten nucleotides upstream, which creates a transcript with a 10-bp insertion. (J) Patient ID A402. IVS27+4 del T disrupted the splice donor site of intron 27, resulting in exon 27 skipping, which creates a transcript with a 105-bp deletion. (K) Patients ID A452. IVS29+5 G>A disrupted the splice donor site of intron 29, resulting in exon 29 skipping, which creates a transcript with a 151-bp deletion. (L) Patient ID A329. IVS21–367 C>T produced a new splice donor site, resulting in a cryptic exon activation between exons 21 and 22 and creating a transcript with a 93-bp insertion. (M) Patient ID A375. Mutation in last nucleotide of exon 25, C1948 G>T, disrupted the splice donor site of intron 25, resulting in exon 25 skipping, which creates a transcript with a 169-bp deletion. (N) Patient ID A422. Mutation of the second nucleotide of exon 10, C548 dup G, disrupted the splicing acceptor site of intron 9, resulting in exon 10 skipping, which creates a transcript with a 63-bp deletion. gDNA, genomic DNA.

Figure 1. — Mutations and their consequences (the same figures are shown in Supplemental Figure 2 with larger scales). Upper panels show schemas of aberrant splicing (red lines). Normal splicing is indicated by black lines. The original and new splice sites and flanking sequences are shown below. Patients’ flanking genomic DNA and cDNA sequences are shown in the lower panels. (A) Patient ID A196. IVS23–1 G>A eliminated the splice acceptor site of intron 23 to activate a new splice site, one nucleotide downstream. (B) Patient ID A333. IVS49+1 G>A disrupted the splicing donor site of intron 49, resulting in an intron 49 insertion, which creates a transcript with a 345-bp insertion. (C) Patient ID A424. IVS 6–1 G>A altered the splice acceptor site of intron 6 one nucleotide downstream, which creates a transcript with a 1-bp deletion. (D) Patient ID A231, A258, A298. IVS35–4 A>G altered the splice acceptor site of intron 35 three nucleotides upstream, which creates a transcript with a 3-bp insertion. (E) Patient ID A247. IVS 12+5 G>A disrupted the splice donor site of intron 12, resulting in exon 12 skipping, which creates a transcript with a 42-bp deletion. (F) Patient ID A299. IVS29+3 A>G disrupted the splice donor site of intron 29, resulting in exon 29 skipping, which creates a transcript with a 151-bp deletion. (G) Patient ID A323. IVS40–9 C>G altered the splice acceptor site of intron 40 nine nucleotides upstream, which creates a transcript with a 9-bp insertion. (H) Patient ID A371. IVS 18+3_6 del AAGT disrupted the splice donor site of intron 18, resulting in exon 18 skipping, which creates a transcript with a 42-bp deletion. (I) Patient ID A384. IVS48–11A>G altered the splice acceptor site of intron 48 ten nucleotides upstream, which creates a transcript with a 10-bp insertion. (J) Patient ID A402. IVS27+4 del T disrupted the splice donor site of intron 27, resulting in exon 27 skipping, which creates a transcript with a 105-bp deletion. (K) Patients ID A452. IVS29+5 G>A disrupted the splice donor site of intron 29, resulting in exon 29 skipping, which creates a transcript with a 151-bp deletion. (L) Patient ID A329. IVS21–367 C>T produced a new splice donor site, resulting in a cryptic exon activation between exons 21 and 22 and creating a transcript with a 93-bp insertion. (M) Patient ID A375. Mutation in last nucleotide of exon 25, C1948 G>T, disrupted the splice donor site of intron 25, resulting in exon 25 skipping, which creates a transcript with a 169-bp deletion. (N) Patient ID A422. Mutation of the second nucleotide of exon 10, C548 dup G, disrupted the splicing acceptor site of intron 9, resulting in exon 10 skipping, which creates a transcript with a 63-bp deletion. gDNA, genomic DNA.