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Table 1 Frameshift HIST1H1E mutations of the studied RMNS cohort

From: Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

Nucleotide changegnomADAmino acid changeDomainCADDaSubject
c.408dupGp.Lys137GlufsTer59C-terminal tail34S12
c.414dupCp.Lys139GlnfsTer57C-terminal tail35S4
c.430dupGp.Ala144GlyfsTer52C-terminal tail26.8S13
c.435dupCp.Thr146HisfsTer50C-terminal tail25.3S14
c.441dupCp.Lys148GlnfsTer48C-terminal tail34S1, S5
  1. Nucleotide numbering reflects cDNA numbering with 1 corresponding to the A of the ATG translation initiation codon in the HIST1H1E reference sequence (RefSeq: NM_005321.2, NP_005312.1)
  2. aCADD v1.4. All patients belong to the cohort reported by Flex et al. (4)