Fig. 3: Validation of mutations in FBXW11. | Nature Communications

Fig. 3: Validation of mutations in FBXW11.

From: Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma

Fig. 3

a The location and frequency of the p.F517S and p.I526M mutations in FBXW11. The amino acid position is shown on the x-axis, and coloured boxes represent protein domains. Beta-TrCP_D is the D domain of beta-TrCP; also shown are the location of an F-box domain and WD40 repeats. b Examples of traces generated from Sanger sequencing of clones derived from PCR amplification of FBXW11 exon 13 in tumour (top) and matched normal (lower) DNA from PD52393a (left) and PD52386a (right). Tumour PD52393a had a p.F517S (NM_001378974.1:c.1550 T > C) and a p.I526M (c.1578 C > G) mutation. c Examples of mutant alleles observed in tumour RNA-seq reads from the patients in (b). d Visualisation of the alignment of reads from (b), patient PD52393, in the UCSC Genome Browser, showing the location of mutant alleles relative to FBXW11 exon 13. The A > G mutation at p.F517S (relative to transcript ENST00000517395.6) in the Genomenom Mastermind Variants track refers to the report of this mutation in the OKAJIMA cell line.

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