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

Molecule viewer

#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   DAEFRHDSGY   EVHHQKLVFF   AEDVGSNKGA   IIGLMVGGVV     50

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
2_ALA VAL ClinVar
chr21:27269931
rs193922916
Pathogenic - Alzheimer's disease [MedGen:C0002395,OMIM:104300,SNOMED CT:26929004]
20_PHE LEU 4.7kJPN
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]
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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.