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Results for the Protein: P49810
1709858

PSN2_HUMAN RecName: Full=Presenilin-2; Short=PS-2; AltName: Full=AD3LP; AltName: Full=AD5; AltName: Full=E5-1; AltName: Full=STM-2; Contains: RecName: Full=Presenilin-2 NTF subunit; Contains: RecName: Full=Presenilin-2 CTF subunit

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE 4 (AD4)
  ALZHEIMER DISEASE, FAMILIAL, 4
  ALZHEIMER DISEASE, FAMILIAL, 4, INCLUDED
  CARDIOMYOPATHY, DILATED, 1V
14
3
9
1
7
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Presenilin - pfam01080
PSN - smart00730


Swiss-Prot Protein: P49810
Identical to: NP_000438
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Presenilinpfam010808.1e-25076439
PSNsmart007303.3e-138136434

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs58973334 Polymorphismp.ARG62HISN/A
Swiss-ProtVAR_070027Polymorphismp.ARG71TRPN/A
Swiss-ProtVAR_006462Diseasep.ASN141ILEAlzheimer disease 4 (AD4)
Swiss-ProtVAR_009215Diseasep.MET239ILEAlzheimer disease 4 (AD4)
Swiss-ProtVAR_006463Diseasep.MET239VALAlzheimer disease 4 (AD4)
Swiss-ProtVAR_064903Polymorphismp.SER130LEUN/A
Swiss-ProtVAR_009214Diseasep.THR122PROAlzheimer disease 4 (AD4)
Swiss-ProtVAR_007958Diseasep.VAL148ILEAlzheimer disease 4 (AD4)
OMIM600759.0009 Diseasep.ALA85VALALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0001 Diseasep.ASN141ILEALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0003 Diseasep.ASP439ALAALZHEIMER 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.THR430METALZHEIMER DISEASE, FAMILIAL, 4
OMIM600759.0005 Diseasep.THR122PROALZHEIMER DISEASE, FAMILIAL, 4



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