PDB ID | 1AML | CHAIN | A |
---|---|---|---|
Protein name | AMYLOID A4 | ||
Uniprot Accession | P05067 | ||
The number of similar proteins | 218 | ||
The number of binding states | 17 | ||
The number of binding partners | 7 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1AML (CHAIN: A) | |
1 | Monomeric state |
2 | P05067 |
3 | P14735 |
4 | P80188 |
5 | Q5JRX3 |
6 | P05067 P05067 |
7 | 2OTK 2OTK |
8 | 3IFN 3IFN |
9 | P05067 P05067 P05067 |
10 | P05067 P05067 P05067 P05067 |
11 | P05067 P05067 P05067 P05067 P05067 |
12 | P05067 P05067 P05067 P05067 P05067 P05067 |
13 | P05067 P05067 P05067 P05067 P05067 P05067 P05067 |
14 | P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 |
15 | P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 |
16 | P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 |
17 | P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 P05067 |
Only interaction residues |
|
||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
2_ALA | VAL |
ClinVar chr21:27269931 |
rs193922916
|
Pathogenic | - | Alzheimer disease [Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020] | |
2_ALA | THR |
gnomAD chr21:27269932 |
rs63750847
|
- | 0.000445519 | - | |
7_ASP | ASN | VAR_044424 |
rs63750064
|
LP/P | - | Alzheimer disease 1 (AD1) [MIM:104300] | |
7_ASP | HIS |
ClinVar chr21:27269917 |
rs63750064
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
13_HIS | LEU |
8.3kJPN chr21:27269898 |
-
|
- | 0.0001 | - | |
16_LYS | ASN |
ClinVar chr21:27269888 |
-
|
Likely pathogenic | - | Cerebral amyloid angiopathy, APP-related [MONDO:MONDO:0011583,MedGen:C2751536,OMIM:605714,Orphanet:100006,Orphanet:324703,Orphanet:324708,Orphanet:324713,Orphanet:324718,Orphanet:324723,Orphanet:85458]; Alzheimer disease type 1 [MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300] | |
20_PHE | LEU |
8.3kJPN chr21:27264174 |
-
|
- | 0.0001 | - | |
21_ALA | GLY | VAR_000016 |
rs63750671
|
LP/P | - | Alzheimer disease 1 (AD1) [MIM:104300] | |
21_ALA | GLY |
ClinVar chr21:27264170 |
rs63750671
|
Pathogenic | - | Alzheimer disease type 1|Alzheimer disease|ABetaA21G amyloidosis|not provided [MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300|Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|MONDO:MONDO:0017948,MedGen:C3888307,Orphanet:324718|MedGen:C3661900] | |
22_GLU | GLN | VAR_000017 |
rs63750579
|
LP/P | - | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
22_GLU | GLY | VAR_014215 |
rs63751039
|
LP/P | - | Alzheimer disease 1 (AD1) [MIM:104300] | |
22_GLU | LYS | VAR_014216 |
rs63750579
|
LP/P | - | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
22_GLU | GLN |
ClinVar chr21:27264168 |
rs63750579
|
Pathogenic | - | ABeta amyloidosis, dutch type|Cerebral amyloid angiopathy, APP-related|Alzheimer disease [MONDO:MONDO:0015033,MedGen:C2931672,Orphanet:100006|MONDO:MONDO:0011583,MedGen:C2751536,OMIM:605714,Orphanet:100006,Orphanet:324703,Orphanet:324708,Orphanet:324713,Orphanet:324718,Orphanet:324723,Orphanet:85458|Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020] | |
22_GLU | GLY |
ClinVar chr21:27264167 |
rs63751039
|
Pathogenic | - | Alzheimer disease type 1|ABeta amyloidosis, Arctic type|Alzheimer disease|not provided [MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300|MONDO:MONDO:0017949,MedGen:C2751494,Orphanet:324723|Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|MedGen:C3661900] | |
22_GLU | LYS |
ClinVar chr21:27264168 |
rs63750579
|
Pathogenic | - | ABeta amyloidosis, Italian type|not provided [MONDO:MONDO:0017947,MedGen:C3888308,Orphanet:324713|MedGen:CN517202] | |
23_ASP | ASN | VAR_014217 |
rs63749810
|
LP/P | - | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
23_ASP | ASN |
ClinVar chr21:27264165 |
rs63749810
|
Pathogenic | - | ABeta amyloidosis, Iowa type|not provided|Alzheimer disease [MONDO:MONDO:0017946,MedGen:C3888309,Orphanet:324708|MedGen:C3661900|Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020] | |
24_VAL | MET |
8.3kJPN chr21:27264162 |
-
|
- | 0.0001 | - | |
34_LEU | VAL | VAR_032276 |
rs63750921
|
LP/P | - | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
34_LEU | VAL |
ClinVar chr21:27264132 |
rs63750921
|
Pathogenic | - | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT|not provided [|MedGen:CN517202] |