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

Molecule viewer


Only interaction residues
#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   DAEFRHDSGY   EVHHQKLVFF   AEDVGSNKGA   IIGLMVGGVV     50

Variants

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]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.