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 |
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 |
Only interaction residues |
|
||||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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 | - |