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Results for the Protein: NP_036618
156105681

presenilin-2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE, FAMILIAL, 4
  ALZHEIMER DISEASE, FAMILIAL, 4, INCLUDED
  CARDIOMYOPATHY, DILATED, 1V
9
1
9
1
0
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Presenilin - pfam01080
PSN - smart00730


RefSeq Protein: NP_036618
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Presenilinpfam010801.4e-24676438
PSNsmart007305.5e-138136433

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs58973334 Polymorphismp.ARG62HISN/A
OMIM600759.0009 Diseasep.ALA85VALALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0001 Diseasep.ASN141ILEALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0003 Diseasep.ASP438ALAALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0006 Diseasep.MET239ILEALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0002 Diseasep.MET239VALALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0008 Diseasep.SER130LEUCARDIOMYOPATHY, DILATED, 1V||ALZHEIMER DISEASE, FAMILIAL, 4, INCLUDED
OMIM600759.0007 Diseasep.THR122ARGALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0004 Diseasep.THR429METALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0005 Diseasep.THR122PROALZHEIMER DISEASE, FAMILIAL, 4



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