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 |
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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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Only interaction residues |
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
2_ALA | VAL |
ClinVar chr21:27269931 rs193922916 |
Pathogenic | - | 0.1348 | 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 | 0.0709 | - | |
7_ASP | ASN |
VAR_044424
rs63750064 |
LP/P | - | 0.1047 | Alzheimer disease 1 (AD1) [MIM:104300] | |
7_ASP | HIS |
ClinVar chr21:27269917 rs63750064 |
Likely pathogenic | - | 0.2073 | not provided [MedGen:CN517202] | |
13_HIS | LEU |
8.3kJPN chr21:27269898 - |
- | 0.0001 | 0.1812 | - | |
16_LYS | ASN |
ClinVar chr21:27269888 - |
Likely pathogenic | - | 0.7779 | 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 | 0.7713 | - | |
21_ALA | GLY |
VAR_000016
rs63750671 |
LP/P | - | 0.2623 | Alzheimer disease 1 (AD1) [MIM:104300] | |
21_ALA | GLY |
ClinVar chr21:27264170 rs63750671 |
Pathogenic | - | 0.2623 | 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 | - | 0.3223 | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
22_GLU | GLY |
VAR_014215
rs63751039 |
LP/P | - | 0.375 | Alzheimer disease 1 (AD1) [MIM:104300] | |
22_GLU | LYS |
VAR_014216
rs63750579 |
LP/P | - | 0.4093 | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
22_GLU | GLN |
ClinVar chr21:27264168 rs63750579 |
Pathogenic | - | 0.3223 | 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 | - | 0.375 | 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 | - | 0.4093 | ABeta amyloidosis, Italian type|not provided [MONDO:MONDO:0017947,MedGen:C3888308,Orphanet:324713|MedGen:CN517202] | |
23_ASP | ASN |
VAR_014217
rs63749810 |
LP/P | - | 0.2397 | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
23_ASP | ASN |
ClinVar chr21:27264165 rs63749810 |
Pathogenic | - | 0.2397 | 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 | 0.1176 | - | |
34_LEU | VAL |
VAR_032276
rs63750921 |
LP/P | - | 0.5576 | Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] | |
34_LEU | VAL |
ClinVar chr21:27264132 rs63750921 |
Pathogenic | - | 0.5576 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT|not provided [|MedGen:CN517202] |