Table 1. Summary of known histone mutations.

Histone amino acid	Function/phenotype of mutant	References
H2A
G4	1	[27]
R11	Unknown
R29	1,2,3,4	[27]
G37	Unknown
E56	1,2,3,4	[27]
D72	1	[27]
K74	3	[27]
K75	1,3	[27]
D90	1,3 and inhibited chromatin remodeling by ISWI	[27,30,31]
E91	1	[27]
E92	1,3 and inhibited chromatin remodeling by ISWI	[27,30,31]
E121	1,3	[27]
H2B
E2	1	[27]
S36	1	[27]
G53	1,3 and decreased DNA interaction, increased migration, increased RNA Pol II passage, altered gene expression.	[27,34,35,37]
D68	1,2,4, unstable histone octamer, and impaired H2A.Z-H2B incorporation into chromatin	[27,78,89]
F70	2	[27]
E71	1,2,4,5	[27]
E76	1,2,4,5 and nucleosome instability, increased H2A–H2B dimer mobility, altered gene expression, increased proliferation and colony formation, increased chromatin accessibility, increased interaction with NAP1L1 and NAP1L2 chaperones.	[24–27,33]
E113	1,5 and increased chromatin remodeling by ISWI	[27,31]
H3
R26	Unknown
K27	5 and global loss & focal gain of H3K27me3 modification, suppression of PRC2, altered proliferation, increased H3K27ac histone modification, increased DNA hypomethylation	[20,21,39–45,90]
G34	5 and increased colony formation, increased infiltration, increased proliferation, DNA hypomethylation, decreased H3K36 methylation in cis, increased H3K27 methylation.	[20,39,59,60,61,62,66,91]
K36	1,5 and increased colony formation, suppression of SETD2, global decrease in H3K36 di- and trimethylation, tumor formation in vivo, decreased sensitivity to apoptotic stimuli, impaired homologous recombination	[27,62,66–68]
E50	1,2	[27]
E73	1	[27]
E97	1,2,4 and enhanced colony formation, nucleosome instability	[24,27,70]
E105	1 and yeast sin mutant	[27,71]
H4
G42	1,2,3	[27]
R45	1,3 and Increased resistance to UV damage, increased nucleotide excision repair, yeast sin mutant, prevents Mg2+ dependent chromatin condensation, loss of interaction with nucleosome DNA, decreased RNA Pol II pausing	[7,27,74–76,77,92]
E63	1	[27]
D68	1,2,4	[27]
R92	1,6	[27,73]

Phenotype key: .

¹Impaired yeast growth;

²Increased Nap1-mediated histone dimer exchange;

³Altered nucleosome sliding;

⁴Decreased thermal stability;

⁵Impaired differentiation of cells;

⁶Hypersensitivity to DNA damaging agents.