Overview
This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.
Mutations in this gene were first described in DLBCL in 2013 by Morin et al.3 Mutations were subsequently reported in FL in 2017 by Krysiak et al2 and in BL by Grande et al.4
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
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FL
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BL
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Mutation pattern and selective pressure estimates
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HIST1H1E Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26157090 | G>T | A158S |
| chr6 | 26157096 | A>C | K160Q |
| chr6 | 26157096 | A>G | K160E |
| chr6 | 26157099 | C>G | P161A |
| chr6 | 26157099 | C>T | P161S |
| chr6 | 26157102 | G>A | A162T |
| chr6 | 26157105 | G>A | A163T |
| chr6 | 26157106 | C>T | A163V |
| chr6 | 26157108 | G>A | A164T |
| chr6 | 26157108 | G>C | A164P |
| chr6 | 26157109 | C>G | A164G |
| chr6 | 26157109 | C>T | A164V |
| chr6 | 26157112 | C>G | A165G |
| chr6 | 26157112 | C>T | A165V |
| chr6 | 26157114 | G>A | G166R |
| chr6 | 26157118 | C>T | A167V |
| chr6 | 26157121 | A>T | K168I |
| chr6 | 26157139 | A>G | K174R |
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