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

Clinical Epigenetics

Table 1 Frameshift HIST1H1E mutations of the studied RMNS cohort

Nucleotide change	gnomAD	Amino acid change	Domain	CADD^a	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

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)
^aCADD v1.4. All patients belong to the cohort reported by Flex et al. (4)

ISSN: 1868-7083