| 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) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 38_PRO | LEU |
8.3kJPN chr1:149785121 |
rs1553754959
|
- | 0.0001 | - | |
| 39_HIS | ARG | VAR_087170 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 39_HIS | TYR | VAR_087171 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 39_HIS | PRO |
gnomAD chr12:31944985 |
rs3759295
|
- | 0.0755566 | - | |
| 39_HIS | PRO |
8.3kJPN chr12:31944985 |
rs3759295
|
- | 0.1237 | - | |
| 40_ARG | CYS | VAR_087172 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 40_ARG | CYS |
ClinVar chr1:226252173 |
rs2102735801
|
Pathogenic/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|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 | - | |
| 41_TYR | CYS |
8.3kJPN chr6:26271488 |
-
|
- | 0.0001 | - | |
| 42_ARG | HIS |
8.3kJPN chr6:26045766 |
rs1042668277
|
- | 0.0001 | - | |
| 42_ARG | TRP |
8.3kJPN chr12:31944977 |
rs368361217
|
- | 0.0003 | - | |
| 45_THR | ILE | VAR_087173 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 45_THR | ILE |
ClinVar chr1:226253365 |
rs1657901999
|
Likely pathogenic | - | 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 | - | |
| 48_LEU | ARG | VAR_087174 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 51_ILE | ASN | VAR_087175 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 51_ILE | ASN |
ClinVar chr17:73775018 |
rs2143630846
|
Pathogenic/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|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 | - | |
| 52_ARG | HIS |
8.3kJPN chr1:228612869 |
rs201904037
|
- | 0.0004 | - | |
| 52_ARG | HIS |
8.3kJPN chr6:26045796 |
-
|
- | 0.0001 | - | |
| 53_ARG | HIS |
gnomAD chr1:228612866 |
rs138699472
|
- | 0.000409813 | - | |
| 53_ARG | HIS |
8.3kJPN chr1:149785076 |
rs782807753
|
- | 0.0047 | - | |
| 53_ARG | HIS |
8.3kJPN chr6:26020878 |
rs1343210635
|
- | 0.0001 | - | |
| 54_TYR | CYS |
8.3kJPN chr6:26020881 |
rs1561914338
|
- | 0.0001 | - | |
| 54_TYR | HIS |
8.3kJPN chr6:26045801 |
-
|
- | 0.0001 | - | |
| 55_GLN | LYS | VAR_087176 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 55_GLN | LYS |
ClinVar chr1:226253394 |
rs2102736976
|
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] | |
| 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 | - | |
| 58_THR | ALA |
8.3kJPN chr6:26032114 |
rs765126317
|
- | 0.0001 | - | |
| 61_LEU | ARG | VAR_087177 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 61_LEU | PHE |
8.3kJPN chr6:26020901 |
rs1026102996
|
- | 0.0001 | - | |
| 62_ILE | VAL |
8.3kJPN chr6:26271426 |
rs889798197
|
- | 0.0001 | - | |
| 63_ARG | CYS |
gnomAD chr1:228612837 |
rs201294185
|
- | 0.000433438 | - | |
| 63_ARG | GLY |
gnomAD chr1:228612837 |
rs201294185
|
- | 0.000139177 | - | |
| 63_ARG | CYS |
8.3kJPN chr1:228612837 |
rs201294185
|
- | 0.0035 | - | |
| 66_PRO | LEU |
gnomAD chr6:26020917 |
rs143364138
|
- | 0.000433562 | - | |
| 66_PRO | HIS |
gnomAD chr12:31944904 |
rs150875482
|
- | 0.000186886 | - | |
| 66_PRO | SER |
8.3kJPN chr1:228612828 |
rs201625757
|
- | 0.0001 | - | |
| 66_PRO | SER |
8.3kJPN chr6:26020916 |
rs369516106
|
- | 0.0001 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:26020917 |
rs143364138
|
- | 0.0112 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:26250634 |
rs768039332
|
- | 0.0005 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:26271413 |
rs756545644
|
- | 0.0001 | - | |
| 66_PRO | LEU |
8.3kJPN chr6:27778051 |
rs769595845
|
- | 0.0001 | - | |
| 67_PHE | LEU |
gnomAD chr1:228612823 |
rs144064739
|
- | 0.000123271 | - | |
| 67_PHE | TYR |
gnomAD chr1:228612824 |
rs148655394
|
- | 0.000123269 | - | |
| 67_PHE | SER |
gnomAD chr6:26020920 |
rs147504514
|
- | 0.000119325 | - | |
| 67_PHE | LEU |
8.3kJPN chr1:228612823 |
rs144064739
|
- | 0.0095 | - | |
| 67_PHE | TYR |
8.3kJPN chr1:228612824 |
rs148655394
|
- | 0.0095 | - | |
| 67_PHE | LEU |
8.3kJPN chr6:26045842 |
-
|
- | 0.0001 | - | |
| 68_GLN | TER |
8.3kJPN chr6:26020922 |
rs181930473
|
- | 0.0018 | - | |
| 69_ARG | TRP |
8.3kJPN chr1:149785029 |
-
|
- | 0.0001 | - | |
| 71_VAL | LEU |
8.3kJPN chr6:26250620 |
-
|
- | 0.0001 | - | |
| 72_ARG | TER |
8.3kJPN chr6:26225599 |
rs556601521
|
- | 0.0001 | - | |
| 72_ARG | HIS |
8.3kJPN chr6:26250616 |
-
|
- | 0.0001 | - | |
| 72_ARG | GLN |
8.3kJPN chr6:26271395 |
-
|
- | 0.0001 | - | |
| 74_ILE | THR |
8.3kJPN chr12:31944880 |
rs765335300
|
- | 0.0007 | - | |
| 75_ALA | THR |
8.3kJPN chr1:149785011 |
-
|
- | 0.0001 | - | |
| 75_ALA | THR |
8.3kJPN chr6:26225608 |
-
|
- | 0.0001 | - | |
| 76_GLN | TER |
8.3kJPN chr1:228612798 |
-
|
- | 0.0001 | - | |
| 77_ASP | ASN | VAR_087178 |
-
|
US | - | 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 | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 81_ASP | GLU |
8.3kJPN chr6:26020963 |
-
|
- | 0.0001 | - | |
| 82_LEU | TRP |
8.3kJPN chr6:27778099 |
-
|
- | 0.0001 | - | |
| 83_ARG | CYS | VAR_087180 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 83_ARG | GLY |
ClinVar chr1:226253478 |
rs1657904113
|
Likely pathogenic | - | 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 | - | |
| 85_GLN | HIS |
8.3kJPN chr6:26250576 |
-
|
- | 0.0001 | - | |
| 85_GLN | ARG |
8.3kJPN chr12:31944847 |
-
|
- | 0.0001 | - | |
| 86_SER | GLY |
gnomAD chr6:26020976 |
rs145571906
|
- | 0.000326124 | - | |
| 86_SER | ARG |
8.3kJPN chr6:27778112 |
-
|
- | 0.0001 | - | |
| 87_SER | PRO |
gnomAD chr1:149784975 |
rs782720234
|
- | 0.000105161 | - | |
| 88_ALA | SER |
8.3kJPN chr1:228612762 |
-
|
- | 0.0001 | - | |
| 90_GLY | ARG | VAR_087181 |
-
|
LP/P | - | 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 | - | |
| 92_LEU | VAL |
8.3kJPN chr1:149784960 |
-
|
- | 0.0001 | - | |
| 95_ALA | VAL |
8.3kJPN chr6:26045925 |
rs752518862
|
- | 0.0001 | - | |
| 95_ALA | ASP |
8.3kJPN chr6:26225669 |
-
|
- | 0.0001 | - | |
| 96_CYS | TRP |
8.3kJPN chr6:26031998 |
-
|
- | 0.0001 | - | |
| 97_GLU | LYS |
8.3kJPN chr1:228612735 |
rs201439742
|
- | - | - | |
| 98_ALA | VAL |
8.3kJPN chr6:26021013 |
rs748134309
|
- | 0.0001 | - | |
| 99_TYR | HIS |
8.3kJPN chr6:26250536 |
rs1331582268
|
- | 0.0001 | - | |
| 100_LEU | PHE |
8.3kJPN chr6:26031986 |
-
|
- | 0.0002 | - | |
| 103_LEU | PRO |
8.3kJPN chr6:26045949 |
-
|
- | 0.0001 | - | |
| 104_PHE | LEU |
gnomAD chr1:149784922 |
rs201064709
|
- | 0.00128519 | - | |
| 104_PHE | SER |
8.3kJPN chr6:26225696 |
-
|
- | 0.0001 | - | |
| 105_GLU | GLY |
8.3kJPN chr1:228612710 |
rs868727723
|
- | 0.0001 | - | |
| 106_ASP | VAL |
gnomAD chr6:27778171 |
rs139893026
|
- | 0.000369864 | - | |
| 108_ASN | SER | VAR_087182 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 108_ASN | SER |
8.3kJPN chr6:26045964 |
-
|
- | 0.0001 | - | |
| 111_ALA | VAL |
gnomAD chr12:31944769 |
rs113082334
|
- | 0.00254881 | - | |
| 112_ILE | LEU | VAR_087183 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 112_ILE | VAL | VAR_087184 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 114_ALA | GLY |
8.3kJPN chr1:226259113 |
rs749423281
|
- | 0.0088 | - | |
| 114_ALA | SER |
8.3kJPN chr6:26250491 |
-
|
- | 0.0001 | - | |
| 117_VAL | LEU | VAR_087185 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 117_VAL | ALA |
gnomAD chr12:31944751 |
rs540141669
|
- | 0.00016303 | - | |
| 117_VAL | LEU |
8.3kJPN chr1:149784885 |
-
|
- | 0.0001 | - | |
| 119_ILE | VAL |
8.3kJPN chr6:26031931 |
rs1362284538
|
- | 0.0001 | - | |
| 119_ILE | PHE |
8.3kJPN chr6:27778209 |
-
|
- | 0.0001 | - | |
| 119_ILE | VAL |
8.3kJPN chr6:27858213 |
-
|
- | 0.0001 | - | |
| 120_MET | ILE | VAR_087186 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 120_MET | LYS | VAR_087187 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 120_MET | VAL | VAR_087188 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] | |
| 120_MET | ILE |
ClinVar chr1:226259132 |
rs2102742562
|
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|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 | - | |
| 121_PRO | LEU | VAR_087189 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 121_PRO | ARG | VAR_087190 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 121_PRO | ARG |
ClinVar chr1:226259134 |
rs1576203003
|
Pathogenic/Likely pathogenic | - | Inborn genetic diseases|H3F3A-related disorders [MeSH:D030342,MedGen:C0950123|] | |
| 121_PRO | ARG |
ClinVar chr17:73774722 |
rs2143629995
|
Pathogenic | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 121_PRO | LEU |
8.3kJPN chr6:26031924 |
rs990217604
|
- | 0.0001 | - | |
| 122_LYS | ASN |
gnomAD chr1:149784868 |
rs587674278
|
- | 0.00027116 | - | |
| 122_LYS | GLU |
gnomAD chr12:31944737 |
rs112159493
|
- | 0.00278745 | - | |
| 124_ILE | PHE |
8.3kJPN chr6:26021090 |
rs199573090
|
- | 0.0064 | - | |
| 124_ILE | ASN |
8.3kJPN chr6:26225756 |
rs751176237
|
- | - | - | |
| 124_ILE | MET |
8.3kJPN chr12:31944729 |
rs758582920
|
- | 0.0001 | - | |
| 125_GLN | ARG | VAR_087191 |
-
|
LP/P | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 125_GLN | ARG |
ClinVar chr1:226259146 |
rs1276519904
|
Pathogenic/Likely pathogenic | - | 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 | - | 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 | - | Bryant-Li-Bhoj neurodevelopmental syndrome 2 [MONDO:MONDO:0030607,MedGen:C5676906,OMIM:619721] | |
| 125_GLN | PRO |
gnomAD chr6:26021094 |
rs199943654
|
- | 0.000191859 | - | |
| 126_LEU | VAL |
8.3kJPN chr6:26021096 |
-
|
- | 0.0001 | - | |
| 126_LEU | PHE |
8.3kJPN chr6:27778230 |
rs751190554
|
- | 0.0001 | - | |
| 127_ALA | SER |
8.3kJPN chr1:149784855 |
-
|
- | 0.0001 | - | |
| 127_ALA | SER |
8.3kJPN chr6:26021099 |
-
|
- | 0.0001 | - | |
| 128_ARG | CYS | VAR_087192 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 128_ARG | HIS | VAR_087193 |
-
|
US | - | Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] | |
| 128_ARG | HIS |
ClinVar chr1:226259155 |
rs1658121882
|
Pathogenic/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|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 | - | |
| 129_ARG | GLN |
gnomAD chr12:31944715 |
rs147097287
|
- | 0.000214792 | - | |
| 129_ARG | TRP |
gnomAD chr12:31944716 |
rs563955459
|
- | 0.000175009 | - | |
| 129_ARG | CYS |
8.3kJPN chr6:26225770 |
rs966515186
|
- | 0.0001 | - | |
| 129_ARG | PRO |
8.3kJPN chr6:27839705 |
-
|
- | 0.0001 | - | |
| 129_ARG | GLN |
8.3kJPN chr12:31944715 |
rs147097287
|
- | 0.0002 | - | |
| 130_ILE | ASN |
8.3kJPN chr6:26021109 |
rs764923225
|
- | 0.0001 | - | |
| 132_GLY | TRP |
8.3kJPN chr6:27839697 |
rs749470205
|
- | 0.0001 | - | |
| 133_GLU | GLN |
ClinVar chr6:26021117 |
rs764264135
|
Likely pathogenic | - | Multiple myeloma [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443] |