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Results for the Protein: P05067
112927
351
APP

A4_HUMAN RecName: Full=Amyloid beta A4 protein; AltName: Full=ABPP; AltName: Full=APPI; Short=APP; AltName: Full=Alzheimer disease amyloid protein; AltName: Full=Cerebral vascular amyloid peptide; Short=CVAP; AltName: Full=PreA4; AltName: Full=Protease nexin-II; Short=PN-II; Contains: RecName: Full=N-APP; Contains: RecName: Full=Soluble APP-alpha; Short=S-APP-alpha; Contains: RecName: Full=Soluble APP-beta; Short=S-APP-beta; Contains: RecName: Full=C99; Contains: RecName: Full=Beta-amyloid protein 42; AltName: Full=Beta-APP42; Contains: RecName: Full=Beta-amyloid protein 40; AltName: Full=Beta-APP40; Contains: RecName: Full=C83; Contains: RecName: Full=P3(42); Contains: RecName: Full=P3(40); Contains: RecName: Full=C80; Contains: RecName: Full=Gamma-secretase C-terminal fragment 59; AltName: Full=Amyloid intracellular domain 59; Short=AICD-59; Short=AID(59); AltName: Full=Gamma-CTF(59); Contains: RecName: Full=Gamma-secretase C-terminal fragment 57; AltName: Full

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE 1 (AD1)
  ALZHEIMER DISEASE, FAMILIAL, 1
  ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
  ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
  ALZHEIMER DISEASE, PROTECTION AGAINST
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (CAA-APP)
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
37
3
20
0
20
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Default View:

A4_EXTRA - smart00006
KU - smart00131
APP_amyloid - pfam10515


Swiss-Prot Protein: P05067
Identical to: NP_000475
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
A4_EXTRAsmart000064.4e-13124188
KUsmart001311.1e-26289341
APP_amyloidpfam105151.3e-36714766

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000016Diseasep.ALA692GLYAlzheimer disease 1 (AD1)
Swiss-ProtVAR_000019Diseasep.ALA713THRAlzheimer disease 1 (AD1)
Swiss-ProtVAR_000018Polymorphismp.ALA713VALN/A
Swiss-ProtVAR_044424Diseasep.ASP678ASNAlzheimer disease 1 (AD1)
Swiss-ProtVAR_014217Diseasep.ASP694ASNCerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-ProtVAR_010107Polymorphismp.GLU665ASPN/A
Swiss-ProtVAR_000017Diseasep.GLU693GLNCerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-ProtVAR_014215Diseasep.GLU693GLYAlzheimer disease 1 (AD1)
Swiss-ProtVAR_022315Polymorphismp.GLU501LYSN/A
Swiss-ProtVAR_014216Diseasep.GLU693LYSCerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-ProtVAR_000020Diseasep.ILE716VALAlzheimer disease 1 (AD1)
Swiss-ProtVAR_010109Diseasep.LEU723PROAlzheimer disease 1 (AD1)
Swiss-ProtVAR_032276Diseasep.LEU705VALCerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-ProtVAR_032277Diseasep.THR714ALAAlzheimer disease 1 (AD1)
Swiss-ProtVAR_014218Diseasep.THR714ILEAlzheimer disease 1 (AD1)
Swiss-ProtVAR_000022Diseasep.VAL717GLYAlzheimer disease 1 (AD1)
Swiss-ProtVAR_000021Diseasep.VAL717ILEAlzheimer disease 1 (AD1)
Swiss-ProtVAR_014219Diseasep.VAL717LEUAlzheimer disease 1 (AD1)
Swiss-ProtVAR_010108Diseasep.VAL715METAlzheimer disease 1 (AD1)
Swiss-ProtVAR_000023Diseasep.VAL717PHEAlzheimer disease 1 (AD1)
OMIM104760.0005 Diseasep.ALA692GLYCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
OMIM104760.0023 Diseasep.ALA673THRALZHEIMER DISEASE, PROTECTION AGAINST
OMIM104760.0009 Diseasep.ALA713THRALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0022 Diseasep.ALA673VALALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
OMIM104760.0016 Diseasep.ASN694ASPCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
OMIM104760.0010 Diseasep.GLU665ASPALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0001 Diseasep.GLU693GLNCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
OMIM104760.0013 Diseasep.GLU693GLYALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
OMIM104760.0014 Diseasep.GLU693LYSCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
OMIM104760.0011 Diseasep.ILE716VALALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0019 Diseasep.LEU705VALCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
OMIM104760.0008 Diseasep.LYS670ASNALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0008 Diseasep.MET671LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0017 Diseasep.THR714ALAALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0015 Diseasep.THR714ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0004 Diseasep.VAL717GLYALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0002 Diseasep.VAL717ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0021 Diseasep.VAL717LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0012 Diseasep.VAL715METALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0003 Diseasep.VAL717PHEALZHEIMER DISEASE, FAMILIAL, 1



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