| PDB ID | 4HSU
|
CHAIN | C |
|---|---|---|---|
| Protein name | Histone H3 | ||
| Uniprot Accession | Q92133 | ||
| The number of similar proteins | 13 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 8 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 4HSU (CHAIN: C) | |
| 1 |
Q49A26
Q8NB78
|
| 2 |
F7BJB9
|
| 3 |
Q9GYI0
|
| 4 |
Q9AXT8
|
| 5 |
C3SHQ8
|
| 6 |
P26358
P62979
P62979
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 1_ALA | VAL |
8.3kJPN chr6:26250829 rs761937041 |
- | 0.0001 | - | - | |
| 2_ARG | PRO |
8.3kJPN chr6:26197471 - |
- | 0.0001 | - | - | |
| 2_ARG | LEU |
8.3kJPN chr12:31945093 rs1312740080 |
- | 0.0001 | - | - | |
| 5_GLN | TER |
8.3kJPN chr1:149785221 rs1553755012 |
- | 0.0002 | - | - | |
| 5_GLN | LYS |
8.3kJPN chr1:228613011 - |
- | 0.0001 | - | - | |
| 5_GLN | TER |
8.3kJPN chr6:26197463 - |
- | 0.0001 | - | - | |
| 7_ALA | THR |
gnomAD chr1:228613005 rs114860054 |
- | 0.00315384 | - | - | |
| 8_ARG | HIS |
gnomAD chr12:31945075 rs567948186 |
- | 0.000431234 | - | - | |
| 8_ARG | CYS |
8.3kJPN chr1:228613002 rs147766330 |
- | 0.0001 | - | - | |
| 9_LYS | GLU |
ClinVar chr17:73775228 rs2143631415 |
Likely pathogenic | - | - | Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874] | |
| 10_SER | PRO |
ClinVar chr17:73775225 rs2143631409 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 11_THR | ILE |
ClinVar chr17:73775221 - |
Likely pathogenic | - | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 11_THR | ALA |
8.3kJPN chr6:26045672 rs750814944 |
- | 0.0001 | - | - | |
| 11_THR | SER |
8.3kJPN chr6:27777885 - |
- | 0.0001 | - | - | |
| 11_THR | ILE |
8.3kJPN chr6:27777886 rs1161634758 |
- | 0.0001 | - | - | |
| 12_GLY | SER |
ClinVar chr17:73775219 rs11547391 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 12_GLY | SER |
gnomAD chr12:31945064 rs61745042 |
- | 0.00828174 | - | - | |
| 12_GLY | ARG |
8.3kJPN chr1:228612990 rs1397772335 |
- | 0.0001 | - | - | |
| 13_GLY | ASP |
8.3kJPN chr6:26271572 - |
- | 0.0001 | - | - | |
| 15_ALA | VAL |
gnomAD chr1:228612980 rs571515258 |
- | 0.00014814 | - | - | |
| 17_ARG | GLY |
ClinVar chr1:226252104 rs2102735576 |
Pathogenic | - | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1|not provided [MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720|MedGen:C3661900] | |
| 17_ARG | CYS |
ClinVar chr17:73775204 - |
Likely pathogenic | - | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 17_ARG | HIS |
gnomAD chr12:31945048 rs754427138 |
- | 0.000115508 | - | - | |
| 22_THR | LYS |
ClinVar chr17:73775188 rs2143631320 |
Likely pathogenic | - | - | Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]; Brain imaging abnormality [Human Phenotype Ontology:HP:0410263,MedGen:C2711610]; Global developmental delay [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874] | |
| 22_THR | ARG |
ClinVar chr17:73775188 rs2143631320 |
Likely pathogenic | - | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 22_THR | ILE |
8.3kJPN chr1:149785169 rs1447650068 |
- | 0.0002 | - | - | |
| 22_THR | ALA |
8.3kJPN chr6:26045705 rs745690555 |
- | 0.0001 | - | - | |
| 22_THR | ALA |
8.3kJPN chr6:26225449 rs200763787 |
- | 0.0041 | - | - | |
| 22_THR | SER |
8.3kJPN chr6:27777919 - |
- | 0.0001 | - | - | |
| 26_ARG | CYS |
8.3kJPN chr1:228612948 rs750781461 |
- | 0.0001 | - | - |