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Moreover, mutations from in-frame deletion of TRPML1 greatly influence the channel integrality.
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EGFRvIII is a tumor-specific mutation that results from in-frame deletion of 801 base pairs spanning exons 2 7 of the coding sequence.
In this study, in agreement with data from others [ 22], the majority of EGFR mutations were in-frame deletions in exon 19.
Other mutations include nonsense mutations, missense mutations and in-frame deletion (Everett, 2011).
The majority of EZH2 mutations identified in patients with Weaver syndrome so far include missense mutations, some in-frame mutations, and very few nonsense/frameshift mutations.
Frameshift, splice and nonsense mutations and in-frame insertions/deletions are defined as "complex TP53 mutations".
Both are full-length homologs with no frame-shift mutations or in-frame stop codons [ Additional File 18].
The most common EGFR mutations are in-frame deletions in exon 19 and L858R point mutations in exon 21.
The majority mutations were in-frame deletions in exon 19 and the missense mutation L858R in exon 21.
Identification of damaging in-frame mutations (missense mutations and in-frame insertions/deletions/indels) and deleterious single-nucleotide polymorphisms (SNPs) were achieved by using HGMD (Stenson et al. 2009) and sorting intolerant from tolerant (SIFT) prediction tool (Sim et al. 2012), respectively.
In addition, 30% of total mutations were in-frame mutations and may not affect enzymatic activity of tyr.
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