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Results for the Protein: NP_001191230
324021738
351
APP

amyloid beta A4 protein isoform h 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:

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-28289342
APP_Npfam021772.9e-13224188
Kunitz_BPTIpfam000144.6e-27290342
Beta-APPpfam034946.9e-27657695
A4_EXTRAsmart000064.4e-13124188
KUsmart001311.1e-26289341
APP_amyloidpfam105151.3e-36696748

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM104760.0005 Diseasep.ALA674GLYCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
OMIM104760.0023 Diseasep.ALA655THRALZHEIMER DISEASE, PROTECTION AGAINST
OMIM104760.0009 Diseasep.ALA695THRALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0022 Diseasep.ALA655VALALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
OMIM104760.0016 Diseasep.ASN676ASPCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
OMIM104760.0010 Diseasep.GLU647ASPALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0001 Diseasep.GLU675GLNCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
OMIM104760.0013 Diseasep.GLU675GLYALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
OMIM104760.0014 Diseasep.GLU675LYSCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
OMIM104760.0011 Diseasep.ILE698VALALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0019 Diseasep.LEU687VALCEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
OMIM104760.0008 Diseasep.LYS652ASNALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0008 Diseasep.MET653LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0017 Diseasep.THR696ALAALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0015 Diseasep.THR696ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0004 Diseasep.VAL699GLYALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0002 Diseasep.VAL699ILEALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0021 Diseasep.VAL699LEUALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0012 Diseasep.VAL697METALZHEIMER DISEASE, FAMILIAL, 1
OMIM104760.0003 Diseasep.VAL699PHEALZHEIMER DISEASE, FAMILIAL, 1



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