PDB ID | 3B95 | CHAIN | A |
---|---|---|---|
Protein name | Euchromatic histone-lysine N-methyltransferase 1 | ||
Uniprot Accession | Q5VT56 | ||
The number of similar proteins | 2 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3B95 (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
772_SER | TER |
ClinVar chr9:140685325 |
rs886042018
|
Pathogenic | - | not provided [MedGen:CN517202] | |
778_PRO | ARG |
ClinVar chr9:140685343 |
-
|
Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
808_GLY | VAL |
ClinVar chr9:140693275 |
rs1554888939
|
Likely pathogenic | - | Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494] | |
811_CYS | TYR |
ClinVar chr9:140693284 |
-
|
Likely pathogenic | - | Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494] | |
813_HIS | TYR |
ClinVar chr9:140693289 |
rs1953188177
|
Likely pathogenic | - | Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494] | |
825_GLN | TER |
ClinVar chr9:140693325 |
rs1588770875
|
Pathogenic | - | Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494] | |
842_GLY | VAL |
ClinVar chr9:140695342 |
-
|
Likely pathogenic | - | Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494] | |
843_TRP | TER |
ClinVar chr9:140695346 |
rs1057524142
|
Pathogenic | - | not provided [MedGen:CN517202] | |
852_TYR | TER |
ClinVar chr9:140695373 |
rs1953425077
|
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] | |
856_ASP | ALA |
8.3kJPN chr9:140695384 |
-
|
- | 0.0002 | - | |
858_VAL | MET |
8.3kJPN chr9:140695389 |
rs775400731
|
- | 0.0001 | - | |
868_ILE | VAL |
gnomAD chr9:140695419 |
rs144085805
|
- | 0.000393901 | - | |
871_ARG | TER |
ClinVar chr9:140695428 |
rs886041844
|
Pathogenic | - | not provided|Kleefstra syndrome 1 [MedGen:C3661900|MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494] | |
888_VAL | MET |
8.3kJPN chr9:140705955 |
rs749976725
|
- | 0.0001 | - | |
890_ILE | LEU |
8.3kJPN chr9:140705961 |
rs780048403
|
- | 0.0001 | - | |
892_GLU | LYS |
gnomAD chr9:140705967 |
rs367643028
|
- | 0.000108265 | - | |
920_ARG | CYS |
8.3kJPN chr9:140706051 |
rs146451775
|
- | 0.0001 | - | |
925_VAL | ILE |
8.3kJPN chr9:140706066 |
rs181347484
|
- | 0.0001 | - | |
946_GLN | TER |
ClinVar chr9:140707519 |
rs2137711618
|
Pathogenic | - | not provided [MedGen:C3661900] | |
953_GLN | TER |
ClinVar chr9:140707540 |
rs1085307843
|
Pathogenic | - | not provided [MedGen:CN517202] | |
955_TRP | TER |
ClinVar chr9:140707548 |
rs1554896104
|
Pathogenic | - | not provided [MedGen:CN517202] | |
959_GLN | HIS |
gnomAD chr9:140707560 |
rs143669310
|
- | 0.000805699 | - | |
959_GLN | HIS |
8.3kJPN chr9:140707560 |
rs143669310
|
- | 0.0167 | - |