PDB ID | 2G47
|
CHAIN | C |
---|---|---|---|
Protein name | amyloid protein beta A4 | ||
PDB | 2G47 | ||
The number of similar proteins | 134 | ||
The number of binding states | 16 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2G47 (CHAIN: C) | |
1 |
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2 | Monomeric state |
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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Only interaction residues |
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Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
2_ALA | VAL |
ClinVar chr21:27269931 |
rs193922916
|
Pathogenic | - | Alzheimer's disease [MedGen:C0002395,OMIM:104300,SNOMED CT:26929004] | |
2_ALA | THR |
gnomAD chr21:27269932 |
rs63750847
|
- | 0.000445519 | - | |
20_PHE | LEU |
8.3kJPN chr21:27264174 |
-
|
- | 0.0001 | - | |
21_ALA | GLY |
ClinVar chr21:27264170 |
rs63750671
|
Pathogenic | - | Alzheimer disease, type 1 [MedGen:C2931257]; Alzheimer's disease [MedGen:C0002395,OMIM:104300,SNOMED CT:26929004]; Cerebral amyloid angiopathy, APP-related [MedGen:C2751536,OMIM:605714]; not provided [MedGen:CN517202] | |
22_GLU | GLN |
ClinVar chr21:27264168 |
rs63750579
|
Pathogenic | - | Cerebral amyloid angiopathy, APP-related [MedGen:C2751536,OMIM:605714] | |
22_GLU | GLY |
ClinVar chr21:27264167 |
rs63751039
|
Pathogenic | - | Alzheimer disease, type 1 [MedGen:C2931257]; Alzheimer's disease [MedGen:C0002395,OMIM:104300,SNOMED CT:26929004]; Cerebral amyloid angiopathy, APP-related [MedGen:C2751536,OMIM:605714]; not provided [MedGen:CN517202] | |
22_GLU | LYS |
ClinVar chr21:27264168 |
rs63750579
|
Pathogenic | - | Cerebral amyloid angiopathy, APP-related [MedGen:C2751536,OMIM:605714]; not provided [MedGen:CN517202] | |
23_ASP | ASN |
ClinVar chr21:27264165 |
rs63749810
|
Pathogenic | - | Alzheimer's disease [MedGen:C0002395,OMIM:104300,SNOMED CT:26929004]; Cerebral amyloid angiopathy, APP-related [MedGen:C2751536,OMIM:605714]; not provided [MedGen:CN517202] |