| PDB ID | 5KDM
|
CHAIN | A |
|---|---|---|---|
| Protein name | Histone H3.3 | ||
| Uniprot Accession | P84243 | ||
| The number of similar proteins | 393 | ||
| The number of binding states | 22 | ||
| The number of binding partners | 19 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 5KDM (CHAIN: A) | |
| 1 |
P62805
Q1HVJ0
Q9UER7
|
| 2 |
P62801
|
| 3 |
P62805
Q9UER7
|
| 4 |
P84040
P49736
|
| 5 |
Q6IA08
P62799
|
| 6 |
P62799
Q6AZJ8
|
| 7 |
P68431
P62805
|
| 8 |
P84243
P62805
P04908
|
| 9 |
P49321-2
Q9NVP2
P62805
|
| 10 |
Q4WXX5
P02309
Q4WUS9
|
| 11 |
P84233
P62799
Q68D10
|
| 12 |
P84243
P62805
P0C0S5
P04908
|
| 13 |
P84233
P62799
Q6AZJ8
P06701
|
| 14 |
P84233
P62799
Q6AZJ8
P35226
|
| 15 |
P68431
P62805
P04908
P16402
|
| 16 |
Q4WXX5
P02309
P39984
P0ABE7
|
| 17 |
P84233
P62799
Q68D10
Q68D10
|
| 18 |
P84233
P62799
Q6AZJ8
Q6AZJ8
P06701
|
| 19 |
P68431
P62805
P04908
P04908
Q92522
|
| 20 |
A0A310TTQ1
P62799
P06897
Q9UKL0
O60341
|
| 21 |
P61830
P02309
P04912
P06701
P02293
|
| 22 |
A0A310TTQ1
P62799
P06897
P06897
Q9UKL0
O60341
|
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 | |
|---|---|---|---|---|---|---|---|
| 38_PRO | LEU |
8.3kJPN chr1:149785121 rs1553754959 |
- | 0.0001 | 0.868 | - | |
| 39_HIS | ARG |
VAR_087170
- |
US | - | 0.8667 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 39_HIS | TYR |
VAR_087171
- |
US | - | 0.7239 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 39_HIS | PRO |
gnomAD chr12:31944985 rs3759295 |
- | 0.0755566 | 0.921 | - | |
| 39_HIS | PRO |
8.3kJPN chr12:31944985 rs3759295 |
- | 0.1237 | 0.921 | - | |
| 40_ARG | CYS |
VAR_087172
- |
US | - | 0.9916 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 40_ARG | CYS |
ClinVar chr1:226252173 rs2102735801 |
Pathogenic/Likely pathogenic | - | 0.9916 | 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|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [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|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720] | |
| 40_ARG | HIS |
8.3kJPN chr6:27839972 rs759503770 |
- | 0.0001 | 0.9764 | - | |
| 41_TYR | CYS |
8.3kJPN chr6:26271488 - |
- | 0.0001 | 0.972 | - | |
| 42_ARG | HIS |
8.3kJPN chr6:26045766 rs1042668277 |
- | 0.0001 | 0.9604 | - | |
| 42_ARG | TRP |
8.3kJPN chr12:31944977 rs368361217 |
- | 0.0003 | 0.9959 | - | |
| 45_THR | ILE |
VAR_087173
- |
LP/P | - | 0.9838 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 45_THR | ILE |
ClinVar chr1:226253365 rs1657901999 |
Likely pathogenic | - | 0.9838 | Inborn genetic diseases|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720] | |
| 47_ALA | THR |
8.3kJPN chr6:27839952 rs777522650 |
- | 0.0001 | 0.9916 | - | |
| 48_LEU | ARG |
VAR_087174
- |
US | - | 0.9938 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 51_ILE | ASN |
VAR_087175
- |
US | - | 0.9981 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 51_ILE | ASN |
ClinVar chr17:73775018 rs2143630846 |
Pathogenic/Likely pathogenic | - | 0.9981 | 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|Bryant-Li-Bhoj neurodevelopmental syndrome 2 [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|MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 52_ARG | TRP |
8.3kJPN chr1:149785080 rs200122276 |
- | 0.002 | 0.996 | - | |
| 52_ARG | HIS |
8.3kJPN chr1:228612869 rs201904037 |
- | 0.0004 | 0.9901 | - | |
| 52_ARG | HIS |
8.3kJPN chr6:26045796 - |
- | 0.0001 | 0.9901 | - | |
| 53_ARG | HIS |
gnomAD chr1:228612866 rs138699472 |
- | 0.000409813 | 0.7446 | - | |
| 53_ARG | HIS |
8.3kJPN chr1:149785076 rs782807753 |
- | 0.0047 | 0.7446 | - | |
| 53_ARG | HIS |
8.3kJPN chr6:26020878 rs1343210635 |
- | 0.0001 | 0.7446 | - | |
| 54_TYR | CYS |
8.3kJPN chr6:26020881 rs1561914338 |
- | 0.0001 | 0.9771 | - | |
| 54_TYR | HIS |
8.3kJPN chr6:26045801 - |
- | 0.0001 | 0.9928 | - | |
| 55_GLN | LYS |
VAR_087176
- |
US | - | 0.9942 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 55_GLN | LYS |
ClinVar chr1:226253394 rs2102736976 |
Likely pathogenic | - | 0.9942 | 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] | |
| 55_GLN | TER |
8.3kJPN chr1:149785071 rs782001208 |
- | 0.0001 | - | - | |
| 55_GLN | TER |
8.3kJPN chr6:26020883 rs138229455 |
- | 0.0001 | - | - | |
| 58_THR | ALA |
8.3kJPN chr6:26020892 rs144238254 |
- | 0.0001 | 0.7585 | - | |
| 58_THR | ALA |
8.3kJPN chr6:26032114 rs765126317 |
- | 0.0001 | 0.7585 | - | |
| 61_LEU | ARG |
VAR_087177
- |
US | - | 0.9921 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 61_LEU | PHE |
8.3kJPN chr6:26020901 rs1026102996 |
- | 0.0001 | 0.9895 | - | |
| 62_ILE | VAL |
8.3kJPN chr6:26271426 rs889798197 |
- | 0.0001 | 0.3512 | - | |
| 63_ARG | CYS |
gnomAD chr1:228612837 rs201294185 |
- | 0.000433438 | 0.9206 | - | |
| 63_ARG | GLY |
gnomAD chr1:228612837 rs201294185 |
- | 0.000139177 | 0.9248 | - | |
| 63_ARG | CYS |
8.3kJPN chr1:228612837 rs201294185 |
- | 0.0035 | 0.9206 | - | |
| 66_PRO | LEU |
gnomAD chr6:26020917 rs143364138 |
- | 0.000433562 | 0.9947 | - | |
| 66_PRO | HIS |
gnomAD chr12:31944904 rs150875482 |
- | 0.000186886 | 0.9956 | - | |
| 66_PRO | SER |
8.3kJPN chr1:228612828 rs201625757 |
- | 0.0001 | 0.9748 | - | |
| 66_PRO | SER |
8.3kJPN chr6:26020916 rs369516106 |
- | 0.0001 | 0.9748 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:26020917 rs143364138 |
- | 0.0112 | 0.9947 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:26250634 rs768039332 |
- | 0.0005 | 0.9947 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:26271413 rs756545644 |
- | 0.0001 | 0.9947 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:27778051 rs769595845 |
- | 0.0001 | 0.9947 | - | |
| 67_PHE | LEU |
gnomAD chr1:228612823 rs144064739 |
- | 0.000123271 | 0.9988 | - | |
| 67_PHE | TYR |
gnomAD chr1:228612824 rs148655394 |
- | 0.000123269 | 0.9112 | - | |
| 67_PHE | SER |
gnomAD chr6:26020920 rs147504514 |
- | 0.000119325 | 0.9975 | - | |
| 67_PHE | LEU |
8.3kJPN chr1:228612823 rs144064739 |
- | 0.0095 | 0.9988 | - | |
| 67_PHE | TYR |
8.3kJPN chr1:228612824 rs148655394 |
- | 0.0095 | 0.9112 | - | |
| 67_PHE | LEU |
8.3kJPN chr6:26045842 - |
- | 0.0001 | 0.9988 | - | |
| 68_GLN | TER |
8.3kJPN chr6:26020922 rs181930473 |
- | 0.0018 | - | - | |
| 69_ARG | TRP |
8.3kJPN chr1:149785029 - |
- | 0.0001 | 0.9964 | - | |
| 71_VAL | LEU |
8.3kJPN chr6:26250620 - |
- | 0.0001 | 0.9632 | - | |
| 72_ARG | TER |
8.3kJPN chr6:26225599 rs556601521 |
- | 0.0001 | - | - | |
| 72_ARG | HIS |
8.3kJPN chr6:26250616 - |
- | 0.0001 | 0.9775 | - | |
| 72_ARG | GLN |
8.3kJPN chr6:26271395 - |
- | 0.0001 | 0.9569 | - | |
| 74_ILE | THR |
8.3kJPN chr12:31944880 rs765335300 |
- | 0.0007 | 0.9192 | - | |
| 75_ALA | THR |
8.3kJPN chr1:149785011 - |
- | 0.0001 | 0.8635 | - | |
| 75_ALA | THR |
8.3kJPN chr6:26225608 - |
- | 0.0001 | 0.8635 | - | |
| 76_GLN | TER |
8.3kJPN chr1:228612798 - |
- | 0.0001 | - | - | |
| 77_ASP | ASN |
VAR_087178
- |
US | - | 0.8824 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 79_LYS | TER |
8.3kJPN chr6:26271375 rs1390395268 |
- | 0.0013 | - | - | |
| 81_ASP | HIS |
VAR_087179
- |
US | - | 0.9845 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 81_ASP | GLU |
8.3kJPN chr6:26020963 - |
- | 0.0001 | 0.6404 | - | |
| 82_LEU | TRP |
8.3kJPN chr6:27778099 - |
- | 0.0001 | 0.9922 | - | |
| 83_ARG | CYS |
VAR_087180
- |
LP/P | - | 0.9751 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 83_ARG | GLY |
ClinVar chr1:226253478 rs1657904113 |
Likely pathogenic | - | 0.9726 | Neurodevelopmental disorder|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720] | |
| 83_ARG | PRO |
8.3kJPN chr1:149784986 - |
- | 0.0004 | 0.9894 | - | |
| 85_GLN | HIS |
8.3kJPN chr6:26250576 - |
- | 0.0001 | 0.9736 | - | |
| 85_GLN | ARG |
8.3kJPN chr12:31944847 - |
- | 0.0001 | 0.9501 | - | |
| 86_SER | GLY |
gnomAD chr6:26020976 rs145571906 |
- | 0.000326124 | 0.1598 | - | |
| 86_SER | ARG |
8.3kJPN chr6:27778112 - |
- | 0.0001 | 0.9846 | - | |
| 87_SER | PRO |
gnomAD chr1:149784975 rs782720234 |
- | 0.000105161 | - | - | |
| 88_ALA | SER |
8.3kJPN chr1:228612762 - |
- | 0.0001 | 0.4963 | - | |
| 90_GLY | ARG |
VAR_087181
- |
LP/P | - | 0.9626 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 90_MET | LYS |
8.3kJPN chr6:26197207 - |
- | 0.0004 | - | - | |
| 90_MET | THR |
8.3kJPN chr6:26271341 rs759342007 |
- | 0.0001 | - | - | |
| 91_ALA | THR |
8.3kJPN chr12:31944830 rs928601270 |
- | 0.0001 | 0.8644 | - | |
| 92_LEU | VAL |
8.3kJPN chr1:149784960 - |
- | 0.0001 | 0.6105 | - | |
| 95_ALA | VAL |
8.3kJPN chr6:26045925 rs752518862 |
- | 0.0001 | 0.9386 | - | |
| 95_ALA | ASP |
8.3kJPN chr6:26225669 - |
- | 0.0001 | 0.9952 | - | |
| 96_CYS | TRP |
8.3kJPN chr6:26031998 - |
- | 0.0001 | - | - | |
| 97_GLU | LYS |
8.3kJPN chr1:228612735 rs201439742 |
- | - | 0.9952 | - | |
| 98_ALA | VAL |
8.3kJPN chr6:26021013 rs748134309 |
- | 0.0001 | 0.9071 | - | |
| 99_TYR | HIS |
8.3kJPN chr6:26250536 rs1331582268 |
- | 0.0001 | 0.9711 | - | |
| 100_LEU | PHE |
8.3kJPN chr6:26031986 - |
- | 0.0002 | 0.951 | - | |
| 103_LEU | PRO |
8.3kJPN chr6:26045949 - |
- | 0.0001 | 0.9975 | - | |
| 104_PHE | LEU |
gnomAD chr1:149784922 rs201064709 |
- | 0.00128519 | 0.9871 | - | |
| 104_PHE | SER |
8.3kJPN chr6:26225696 - |
- | 0.0001 | 0.9935 | - | |
| 105_GLU | GLY |
8.3kJPN chr1:228612710 rs868727723 |
- | 0.0001 | 0.9344 | - | |
| 106_ASP | VAL |
gnomAD chr6:27778171 rs139893026 |
- | 0.000369864 | 0.9988 | - | |
| 108_ASN | SER |
VAR_087182
- |
US | - | 0.5815 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 108_ASN | SER |
8.3kJPN chr6:26045964 - |
- | 0.0001 | 0.5815 | - | |
| 111_ALA | VAL |
gnomAD chr12:31944769 rs113082334 |
- | 0.00254881 | 0.9904 | - | |
| 112_ILE | LEU |
VAR_087183
- |
US | - | 0.6899 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 112_ILE | VAL |
VAR_087184
- |
US | - | 0.5954 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 114_ALA | GLY |
8.3kJPN chr1:226259113 rs749423281 |
- | 0.0088 | 0.4533 | - | |
| 114_ALA | SER |
8.3kJPN chr6:26250491 - |
- | 0.0001 | 0.4532 | - | |
| 117_VAL | LEU |
VAR_087185
- |
US | - | 0.9946 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 117_VAL | ALA |
gnomAD chr12:31944751 rs540141669 |
- | 0.00016303 | 0.9925 | - | |
| 117_VAL | LEU |
8.3kJPN chr1:149784885 - |
- | 0.0001 | 0.9946 | - | |
| 119_ILE | VAL |
8.3kJPN chr6:26031931 rs1362284538 |
- | 0.0001 | 0.2234 | - | |
| 119_ILE | PHE |
8.3kJPN chr6:27778209 - |
- | 0.0001 | 0.9955 | - | |
| 119_ILE | VAL |
8.3kJPN chr6:27858213 - |
- | 0.0001 | 0.2234 | - | |
| 120_MET | ILE |
VAR_087186
- |
LP/P | - | 0.9892 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 120_MET | LYS |
VAR_087187
- |
LP/P | - | 0.9774 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 120_MET | VAL |
VAR_087188
- |
LP/P | - | 0.9248 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 120_MET | ILE |
ClinVar chr1:226259132 rs2102742562 |
Pathogenic | - | 0.9892 | 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|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [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|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720] | |
| 120_MET | ILE |
8.3kJPN chr6:26250471 - |
- | 0.0001 | 0.9892 | - | |
| 121_PRO | LEU |
VAR_087189
- |
LP/P | - | 0.9539 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 121_PRO | ARG |
VAR_087190
- |
LP/P | - | 0.9654 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 121_PRO | ARG |
ClinVar chr1:226259134 rs1576203003 |
Pathogenic/Likely pathogenic | - | 0.9654 | Inborn genetic diseases|H3F3A-related disorders [MeSH:D030342,MedGen:C0950123|] | |
| 121_PRO | ARG |
ClinVar chr17:73774722 rs2143629995 |
Pathogenic | - | 0.9654 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 121_PRO | LEU |
8.3kJPN chr6:26031924 rs990217604 |
- | 0.0001 | 0.9539 | - | |
| 122_LYS | ASN |
gnomAD chr1:149784868 rs587674278 |
- | 0.00027116 | 0.9956 | - | |
| 122_LYS | GLU |
gnomAD chr12:31944737 rs112159493 |
- | 0.00278745 | 0.9868 | - | |
| 124_ILE | PHE |
8.3kJPN chr6:26021090 rs199573090 |
- | 0.0064 | 0.7636 | - | |
| 124_ILE | ASN |
8.3kJPN chr6:26225756 rs751176237 |
- | - | 0.9823 | - | |
| 124_ILE | MET |
8.3kJPN chr12:31944729 rs758582920 |
- | 0.0001 | 0.2454 | - | |
| 125_GLN | ARG |
VAR_087191
- |
LP/P | - | 0.8867 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 125_GLN | ARG |
ClinVar chr1:226259146 rs1276519904 |
Pathogenic/Likely pathogenic | - | 0.8867 | Inborn genetic diseases|H3F3A-related condition|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [MeSH:D030342,MedGen:C0950123||MedGen:C3661900|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720] | |
| 125_GLN | ARG |
ClinVar chr17:73774710 rs2143629984 |
Pathogenic/Likely pathogenic | - | 0.8867 | Bryant-Li-Bhoj neurodevelopmental syndrome 2|H3-3B-related condition [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721|] | |
| 125_GLN | LYS |
ClinVar chr17:73774711 - |
Likely pathogenic | - | 0.9404 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 125_GLN | PRO |
gnomAD chr6:26021094 rs199943654 |
- | 0.000191859 | 0.9454 | - | |
| 126_LEU | VAL |
8.3kJPN chr6:26021096 - |
- | 0.0001 | 0.9368 | - | |
| 126_LEU | PHE |
8.3kJPN chr6:27778230 rs751190554 |
- | 0.0001 | 0.9901 | - | |
| 127_ALA | SER |
8.3kJPN chr1:149784855 - |
- | 0.0001 | 0.5665 | - | |
| 127_ALA | SER |
8.3kJPN chr6:26021099 - |
- | 0.0001 | 0.5665 | - | |
| 128_ARG | CYS |
VAR_087192
- |
US | - | 0.9435 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 128_ARG | HIS |
VAR_087193
- |
US | - | 0.9498 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 128_ARG | HIS |
ClinVar chr1:226259155 rs1658121882 |
Pathogenic/Likely pathogenic | - | 0.9498 | 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|Bryant-Li-Bhoj neurodevelopmental syndrome 1 [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|MONDO:MONDO:0030606,MedGen:C5676905,OMIM:619720] | |
| 128_ARG | PRO |
8.3kJPN chr6:26197093 - |
- | 0.0001 | 0.998 | - | |
| 129_ARG | GLN |
gnomAD chr12:31944715 rs147097287 |
- | 0.000214792 | 0.9795 | - | |
| 129_ARG | TRP |
gnomAD chr12:31944716 rs563955459 |
- | 0.000175009 | 0.9957 | - | |
| 129_ARG | CYS |
8.3kJPN chr6:26225770 rs966515186 |
- | 0.0001 | 0.9931 | - | |
| 129_ARG | PRO |
8.3kJPN chr6:27839705 - |
- | 0.0001 | 0.9985 | - | |
| 129_ARG | GLN |
8.3kJPN chr12:31944715 rs147097287 |
- | 0.0002 | 0.9795 | - | |
| 130_ILE | ASN |
8.3kJPN chr6:26021109 rs764923225 |
- | 0.0001 | 0.9963 | - | |
| 132_GLY | TRP |
8.3kJPN chr6:27839697 rs749470205 |
- | 0.0001 | 0.9965 | - | |
| 133_GLU | GLN |
ClinVar chr6:26021117 rs764264135 |
Likely pathogenic | - | 0.9336 | Multiple myeloma [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443] |