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Results for the Protein: NP_001129488
209862833
351
APP

amyloid beta A4 protein isoform d [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
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Default View:

A4_EXTRA - smart00006
APP_N - pfam02177
KU - cd00109
KU - smart00131
Kunitz_BPTI - pfam00014
Beta-APP - pfam03494
APP_amyloid - pfam10515




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
KUcd001091.8e-28284337
APP_Npfam021772.9e-13219183
Kunitz_BPTIpfam000144.6e-27285337
Beta-APPpfam034946.9e-27651689
A4_EXTRAsmart000064.4e-13119183
KUsmart001311.1e-26284336
APP_amyloidpfam105151.3e-36690742

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM104760.0005 Diseasep.ALA668GLYCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
OMIM104760.0023 Diseasep.ALA649THRALZHEIMER DISEASE, PROTECTION AGAINST
OMIM104760.0009 Diseasep.ALA689THRALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0022 Diseasep.ALA649VALALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
OMIM104760.0016 Diseasep.ASN670ASPCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
OMIM104760.0010 Diseasep.GLU641ASPALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0001 Diseasep.GLU669GLNCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
OMIM104760.0013 Diseasep.GLU669GLYALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
OMIM104760.0014 Diseasep.GLU669LYSCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
OMIM104760.0011 Diseasep.ILE692VALALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0019 Diseasep.LEU681VALCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
OMIM104760.0008 Diseasep.LYS646ASNALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0008 Diseasep.MET647LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0017 Diseasep.THR690ALAALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0015 Diseasep.THR690ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0004 Diseasep.VAL693GLYALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0002 Diseasep.VAL693ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0021 Diseasep.VAL693LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0012 Diseasep.VAL691METALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0003 Diseasep.VAL693PHEALZHEIMER DISEASE, FAMILIAL, 1



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