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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 change

gnomAD

Amino acid change

Domain

CADDa

Subject

c.408dupG

p.Lys137GlufsTer59

C-terminal tail

34

S12

c.414dupC

p.Lys139GlnfsTer57

C-terminal tail

35

S4

c.430dupG

p.Ala144GlyfsTer52

C-terminal tail

26.8

S13

c.435dupC

p.Thr146HisfsTer50

C-terminal tail

25.3

S14

c.441dupC

p.Lys148GlnfsTer48

C-terminal tail

34

S1, 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)