Supplementary Figure 6: Allele-specific expression of ACVR1 (ALK2) mutation. | Nature Genetics

Supplementary Figure 6: Allele-specific expression of ACVR1 (ALK2) mutation.

From: Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Supplementary Figure 6

(a) Pileup of sequence reads from RNA-seq data of SU-DIPG-IV cells, showing expression of both the wild-type and mutant alleles at position chr. 2: 158,330,762, with 49/83 reads harboring the C>A (c.983G>T) mutation (red) corresponding to ACVR1 (ALK2) p.G328V. (b) Sanger sequencing of an ACVR1 (ALK2) exon 8 RT-PCR product from DIPG patient sample NCHP_DIPG011, showing heterozygous expression of the mutant p.G328E allele (c.983G>A), forward and reverse.

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