PDB ID | 1AOI
|
CHAIN | B |
---|---|---|---|
Protein name | HISTONE H4 | ||
Uniprot Accession | P62799 | ||
The number of similar proteins | 457 | ||
The number of binding states | 30 | ||
The number of binding partners | 26 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
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1AOI (CHAIN: B) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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12 |
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13 |
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14 |
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15 |
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16 |
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17 |
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18 |
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19 |
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20 |
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21 |
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22 |
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23 |
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24 |
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25 |
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26 |
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27 |
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28 |
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29 |
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30 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
20_LYS | GLN |
8.3kJPN chr6:26247145 rs1354706295 |
- | 0.0001 | - | - | |
23_ARG | TER |
8.3kJPN chr6:26204942 rs372764747 |
- | 0.0002 | - | - | |
23_ARG | CYS |
8.3kJPN chr6:27841219 - |
- | 0.0001 | - | - | |
26_ILE | SER |
gnomAD chr6:26189225 rs750884941 |
- | 0.000111404 | - | - | |
31_LYS | THR |
ClinVar chr6:26204967 - |
Pathogenic | - | - | Tessadori-Van Haaften neurodevelopmental syndrome 3 [MONDO:MONDO:0030993,MedGen:C5774310,OMIM:619950] | |
31_LYS | GLN |
8.3kJPN chr6:26027387 - |
- | 0.0001 | - | - | |
32_PRO | LEU |
ClinVar chr6:26204970 - |
Likely pathogenic | - | - | not provided|Inborn genetic diseases [MedGen:C3661900|MeSH:D030342,MedGen:C0950123] | |
32_PRO | LEU |
ClinVar chr6:26104273 - |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
32_PRO | ARG |
ClinVar chr6:26104273 - |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
32_PRO | ARG |
ClinVar chr6:26204970 - |
Pathogenic | - | - | Tessadori-Van Haaften neurodevelopmental syndrome 3 [MONDO:MONDO:0030993,MedGen:C5774310,OMIM:619950] | |
33_ALA | VAL |
8.3kJPN chr6:26022007 rs776166186 |
- | 0.0001 | - | - | |
33_ALA | THR |
8.3kJPN chr6:26027381 - |
- | 0.0001 | - | - | |
34_ILE | LEU |
8.3kJPN chr6:26189202 rs1011647555 |
- | 0.0001 | - | - | |
34_ILE | THR |
8.3kJPN chr6:26204976 rs768482468 |
- | 0.0001 | - | - | |
35_ARG | TRP |
ClinVar chr6:26204978 - |
Pathogenic | - | - | Tessadori-Van Haaften neurodevelopmental syndrome 3 [MONDO:MONDO:0030993,MedGen:C5774310,OMIM:619950] | |
35_ARG | TRP |
ClinVar chr6:27792008 - |
Likely pathogenic | - | - | Tessadori-van Haaften neurodevelopmental syndrome 2 [MONDO:MONDO:0030730,MedGen:C5676923,OMIM:619759] | |
36_ARG | PRO |
ClinVar chr6:26204982 - |
Likely pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
37_LEU | PHE |
8.3kJPN chr6:27107199 - |
- | 0.0001 | - | - | |
40_ARG | LEU |
ClinVar chr6:27107209 - |
Pathogenic | - | - | Tessadori-Van Haaften neurodevelopmental syndrome 4 [MONDO:MONDO:0031000,MedGen:C5677016,OMIM:619951] | |
45_ARG | SER |
ClinVar chr6:26104311 - |
Likely pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
45_ARG | TER |
8.3kJPN chr6:26027345 rs767025164 |
- | 0.0001 | - | - | |
47_SER | TER |
8.3kJPN chr6:26240796 - |
- | 0.0001 | - | - | |
50_ILE | VAL |
gnomAD chr6:26247055 rs370289402 |
- | 0.000115357 | - | - | |
50_ILE | LEU |
8.3kJPN chr6:26205023 rs756223901 |
- | 0.0001 | - | - | |
50_ILE | VAL |
8.3kJPN chr6:26240804 rs1367180593 |
- | 0.0001 | - | - | |
51_TYR | PHE |
8.3kJPN chr6:27799151 - |
- | 0.0001 | - | - | |
52_GLU | ALA |
8.3kJPN chr6:26027323 - |
- | 0.0001 | - | - | |
52_GLU | GLY |
8.3kJPN chr6:26240811 rs773141004 |
- | 0.0001 | - | - | |
54_THR | ILE |
gnomAD chr6:26247042 rs573072581 |
- | 0.000167058 | - | - | |
54_THR | SER |
8.3kJPN chr6:26240817 rs1046492095 |
- | 0.0001 | - | - | |
55_ARG | HIS |
8.3kJPN chr6:26027314 rs1195708639 |
- | 0.0002 | - | - | |
55_ARG | GLN |
8.3kJPN chr12:14923852 rs534031465 |
- | 0.0001 | - | - | |
55_ARG | TRP |
8.3kJPN chr12:14923853 rs762150713 |
- | 0.0001 | - | - | |
57_VAL | GLY |
8.3kJPN chr6:26027308 rs1031808362 |
- | 0.0001 | - | - | |
57_VAL | LEU |
8.3kJPN chr6:26189133 - |
- | 0.0001 | - | - | |
57_VAL | ILE |
8.3kJPN chr6:26205044 - |
- | 0.0001 | - | - | |
57_VAL | LEU |
8.3kJPN chr6:26247034 rs200377159 |
- | 0.0082 | - | - | |
57_VAL | MET |
8.3kJPN chr6:27107259 rs1013949364 |
- | 0.0001 | - | - | |
60_VAL | ALA |
8.3kJPN chr6:26027299 rs780045847 |
- | 0.0001 | - | - | |
61_PHE | LEU |
8.3kJPN chr6:27799120 rs746877857 |
- | 0.0002 | - | - | |
64_ASN | ASP |
8.3kJPN chr6:26240846 - |
- | 0.0001 | - | - | |
65_VAL | ILE |
8.3kJPN chr6:26104371 - |
- | 0.0001 | - | - | |
66_ILE | VAL |
gnomAD chr6:26027282 rs777598662 |
- | 0.000131219 | - | - | |
67_ARG | TRP |
8.3kJPN chr6:27107289 rs1291040170 |
- | 0.0005 | - | - | |
67_ARG | HIS |
8.3kJPN chr12:14923816 - |
- | 0.0001 | - | - | |
68_ASP | GLY |
8.3kJPN chr6:26027275 - |
- | 0.0001 | - | - | |
70_VAL | MET |
8.3kJPN chr6:26246995 rs140916075 |
- | 0.0001 | - | - | |
73_THR | PRO |
8.3kJPN chr12:14923799 rs1171400276 |
- | 0.0002 | - | - | |
74_GLU | ASP |
8.3kJPN chr6:27107312 - |
- | 0.0001 | - | - | |
75_HIS | ARG |
ClinVar chr6:27107314 - |
Pathogenic | - | - | Tessadori-Van Haaften neurodevelopmental syndrome 4 [MONDO:MONDO:0031000,MedGen:C5677016,OMIM:619951] | |
77_LYS | GLN |
ClinVar chr6:26205104 - |
Likely pathogenic | - | - | H4C5-related condition [-] | |
77_LYS | ASN |
8.3kJPN chr6:26240887 - |
- | 0.0001 | - | - | |
78_ARG | PRO |
gnomAD chr6:26022142 rs143300286 |
- | 0.000374421 | - | - | |
78_ARG | CYS |
gnomAD chr6:26027246 rs777473620 |
- | 0.000151114 | - | - | |
78_ARG | PRO |
gnomAD chr6:26240889 rs747684677 |
- | 0.000132062 | - | - | |
80_THR | ALA |
8.3kJPN chr12:14923778 rs760388462 |
- | 0.0001 | - | - | |
81_VAL | ALA |
gnomAD chr6:26022151 rs199857326 |
- | 0.000227104 | - | - | |
82_THR | ILE |
gnomAD chr6:26022154 rs776076104 |
- | 0.000299053 | - | - | |
82_THR | ILE |
8.3kJPN chr6:26027233 rs150504596 |
- | 0.0001 | - | - | |
82_THR | ILE |
8.3kJPN chr6:26189057 rs144742137 |
- | 0.005 | - | - | |
82_THR | SER |
8.3kJPN chr6:26246958 - |
- | 0.0001 | - | - | |
82_THR | ILE |
8.3kJPN chr6:27799058 rs372460457 |
- | 0.0001 | - | - | |
83_ALA | VAL |
gnomAD chr6:26022157 rs147105535 |
- | 0.00173549 | - | - | |
83_ALA | SER |
8.3kJPN chr6:26240903 - |
- | 0.0001 | - | - | |
84_MET | ILE |
8.3kJPN chr6:26027226 - |
- | 0.0001 | - | - | |
84_MET | ILE |
8.3kJPN chr6:27792157 - |
- | - | - | - | |
85_ASP | GLY |
gnomAD chr6:27841032 rs201833445 |
- | 0.000127245 | - | - | |
85_ASP | GLU |
8.3kJPN chr6:26022164 - |
- | 0.0001 | - | - | |
85_ASP | ASN |
8.3kJPN chr6:26240909 - |
- | 0.0004 | - | - | |
86_VAL | LEU |
8.3kJPN chr6:26027222 - |
- | 0.0001 | - | - | |
87_VAL | ILE |
8.3kJPN chr6:26104437 - |
- | 0.0001 | - | - | |
88_TYR | HIS |
8.3kJPN chr12:14923754 - |
- | 0.0001 | - | - | |
89_ALA | SER |
gnomAD chr6:26104443 rs144469714 |
- | 0.000318441 | - | - | |
89_ALA | THR |
8.3kJPN chr6:26104443 rs144469714 |
- | 0.0001 | - | - | |
89_ALA | VAL |
8.3kJPN chr6:26104444 - |
- | 0.0001 | - | - | |
89_ALA | THR |
8.3kJPN chr12:14923751 rs776707867 |
- | 0.0001 | - | - | |
90_LEU | PRO |
8.3kJPN chr6:26205144 - |
- | 0.0001 | - | - | |
91_LYS | GLN |
ClinVar chr6:26104449 rs1763200003 |
Pathogenic | - | - | HIST1H4C-associated disorder [-] | |
91_LYS | GLU |
ClinVar chr6:27792176 rs2113887393 |
Pathogenic | - | - | Tessadori-van Haaften neurodevelopmental syndrome 2 [MONDO:MONDO:0030730,MedGen:C5676923,OMIM:619759] | |
91_LYS | GLN |
ClinVar chr6:27792176 rs2113887393 |
Pathogenic | - | - | Tessadori-van Haaften neurodevelopmental syndrome 1 [MONDO:MONDO:0030729,MedGen:C5676922,OMIM:619758] | |
91_LYS | ARG |
ClinVar chr6:26104450 rs2113784630 |
Likely pathogenic | - | - | Tessadori-van Haaften neurodevelopmental syndrome 1 [MONDO:MONDO:0030729,MedGen:C5676922,OMIM:619758] | |
91_LYS | GLU |
ClinVar chr6:26104449 rs1763200003 |
Pathogenic | - | - | Tessadori-van Haaften neurodevelopmental syndrome 1 [MONDO:MONDO:0030729,MedGen:C5676922,OMIM:619758] | |
92_ARG | CYS |
8.3kJPN chr6:26104452 - |
- | 0.0001 | - | - | |
95_ARG | GLY |
8.3kJPN chr6:27792188 - |
- | 0.0001 | - | - | |
98_TYR | HIS |
ClinVar chr6:26205167 - |
Likely pathogenic | - | - | Tessadori-Van Haaften neurodevelopmental syndrome 3|Inborn genetic diseases [MONDO:MONDO:0030993,MedGen:C5774310,OMIM:619950|MeSH:D030342,MedGen:C0950123] | |
99_GLY | VAL |
8.3kJPN chr6:26027182 - |
- | 0.0001 | - | - | |
99_GLY | ASP |
8.3kJPN chr6:27840990 - |
- | 0.0001 | - | - | |
102_GLY | SER |
gnomAD chr6:27840982 rs45526033 |
- | 0.00601938 | - | - | |
102_GLY | ASP |
8.3kJPN chr6:26240961 rs151068394 |
- | 0.0075 | - | - |