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Results for the Protein: NP_001129601
209915570
351
APP

amyloid beta A4 protein isoform e precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE, FAMILIAL, 1
  ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
  ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
  ALZHEIMER DISEASE, PROTECTION AGAINST
  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
20
0
20
0
0
Tips:
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Default View:

APP_N - pfam02177
A4_EXTRA - smart00006
Beta-APP - pfam03494
APP_amyloid - pfam10515




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
APP_Npfam021772.3e-761132
Beta-APPpfam034946.9e-27544582
A4_EXTRAsmart000068.2e-751132
APP_amyloidpfam105151.3e-36583635

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM104760.0005 Diseasep.ALA561GLYCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
OMIM104760.0023 Diseasep.ALA542THRALZHEIMER DISEASE, PROTECTION AGAINST
OMIM104760.0009 Diseasep.ALA582THRALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0022 Diseasep.ALA542VALALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
OMIM104760.0016 Diseasep.ASN563ASPCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
OMIM104760.0010 Diseasep.GLU534ASPALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0001 Diseasep.GLU562GLNCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
OMIM104760.0013 Diseasep.GLU562GLYALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
OMIM104760.0014 Diseasep.GLU562LYSCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
OMIM104760.0011 Diseasep.ILE585VALALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0019 Diseasep.LEU574VALCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
OMIM104760.0008 Diseasep.LYS539ASNALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0008 Diseasep.MET540LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0017 Diseasep.THR583ALAALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0015 Diseasep.THR583ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0004 Diseasep.VAL586GLYALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0002 Diseasep.VAL586ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0021 Diseasep.VAL586LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0012 Diseasep.VAL584METALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0003 Diseasep.VAL586PHEALZHEIMER DISEASE, FAMILIAL, 1



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