Results for the protein: P49768

Results for the Protein: P49768

1709856

5663

PSEN1

NCBI, UniProt

PSN1_HUMAN RecName: Full=Presenilin-1; Short=PS-1; AltName: Full=Protein S182; Contains: RecName: Full=Presenilin-1 NTF subunit; Contains: RecName: Full=Presenilin-1 CTF subunit; Contains: RecName: Full=Presenilin-1 CTF12; Short=PS1-CTF12

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE 3 (AD3)
  ALZHEIMER DISEASE, FAMILIAL, 3
  ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
  ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
  ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL
  CARDIOMYOPATHY, DILATED 1U (CMD1U)
  CARDIOMYOPATHY, DILATED, 1U
  DEMENTIA, FRONTOTEMPORAL
  FRONTOTEMPORAL DEMENTIA (FTD)
  PICK DISEASE OF BRAIN
  PLAQUES
  PLAQUES, INCLUDED

105

8

32

1

80

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Default View: PSN - smart00730	Swiss-Prot Protein: P49768 Identical to: NP_000012 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006439	Disease	p.ALA246GLU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_025605	Disease	p.ALA431GLU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006459	Disease	p.ALA426PRO	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006435	Disease	p.ALA231THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_070026	Polymorphism	p.ALA396THR	N/A
Swiss-Prot	VAR_009213	Disease	p.ALA409THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006436	Disease	p.ALA231VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006441	Disease	p.ALA260VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006452	Disease	p.ALA285VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006413	Disease	p.ALA79VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006447	Disease	p.ARG269GLY	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006448	Disease	p.ARG269HIS	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006449	Disease	p.ARG278THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010121	Disease	p.ASN135ASP	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010129	Disease	p.ASN405SER	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_064902	Disease	p.ASP333GLY	Cardiomyopathy, dilated 1U (CMD1U)
Swiss-Prot	VAR_006443	Disease	p.CYS263ARG	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_016214	Disease	p.CYS92SER	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006458	Disease	p.CYS410TYR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006450	Disease	p.GLU280ALA	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006418	Disease	p.GLU120ASP	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006451	Disease	p.GLU280GLY	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006454	Polymorphism	p.GLU318GLY	N/A
Swiss-Prot	VAR_006419	Disease	p.GLU120LYS	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_016218	Disease	p.GLY206ALA	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006456	Disease	p.GLY384ALA	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_009210	Disease	p.GLY209ARG	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006455	Disease	p.GLY378GLU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_016219	Disease	p.GLY266SER	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006433	Disease	p.GLY209VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006428	Disease	p.HIS163ARG	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006429	Disease	p.HIS163TYR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_070024	Polymorphism	p.HIS214TYR	N/A
Swiss-Prot	VAR_006423	Disease	p.ILE143PHE	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006424	Disease	p.ILE143THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006434	Disease	p.ILE213THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_070023	Polymorphism	p.LEU134ARG	N/A
Swiss-Prot	VAR_009212	Disease	p.LEU282ARG	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_016217	Disease	p.LEU174MET	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006442	Disease	p.LEU262PHE	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_016215	Disease	p.LEU113PRO	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_016216	Disease	p.LEU166PRO	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006432	Disease	p.LEU171PRO	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010126	Disease	p.LEU219PRO	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006438	Polymorphism	p.LEU235PRO	N/A
Swiss-Prot	VAR_006440	Disease	p.LEU250SER	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010125	Disease	p.LEU173TRP	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_070025	Disease	p.LEU262VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_016220	Disease	p.LEU271VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006453	Disease	p.LEU286VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006457	Disease	p.LEU392VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006420	Disease	p.MET139ILE	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006425	Disease	p.MET146ILE	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006426	Disease	p.MET146LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_009211	Disease	p.MET233LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010122	Disease	p.MET139LYS	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006421	Disease	p.MET139THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006437	Disease	p.MET233THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006422	Disease	p.MET139VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006427	Disease	p.MET146VAL	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_009208	Disease	p.PHE105LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_011876	Polymorphism	p.PHE205LEU	N/A
Swiss-Prot	VAR_006460	Disease	p.PRO436GLN	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_009209	Disease	p.PRO117LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006444	Disease	p.PRO264LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006445	Disease	p.PRO267SER	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_008141	Disease	p.PRO436SER	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006446	Disease	p.PRO267THR	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010127	Disease	p.SER289CYS	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010128	Disease	p.SER390ILE	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006430	Disease	p.SER169LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006431	Disease	p.SER169PRO	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010120	Disease	p.THR116ASN	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010123	Disease	p.THR147ILE	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_010124	Disease	p.TRP165CYS	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006416	Disease	p.TYR115CYS	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_064747	Polymorphism	p.TYR315CYS	N/A
Swiss-Prot	VAR_006417	Disease	p.TYR115HIS	Alzheimer disease 3 (AD3)
dbSNP	rs199723282	Polymorphism	p.VAL261GLY	N/A
Swiss-Prot	VAR_006414	Disease	p.VAL82LEU	Alzheimer disease 3 (AD3)
Swiss-Prot	VAR_006415	Disease	p.VAL96PHE	Alzheimer disease 3 (AD3)
OMIM	104311.0003	Disease	p.ALA246GLU	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0033	Disease	p.ALA431GLU	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0014	Disease	p.ALA426PRO	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0035	Disease	p.ALA79VAL	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0030	Disease	p.ARG278ILE	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0017	Disease	p.ARG278THR	ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL\|\|PLAQUES
OMIM	104311.0034	Disease	p.ASP333GLY	CARDIOMYOPATHY, DILATED, 1U
OMIM	104311.0020	Disease	p.CYS92SER	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0005	Disease	p.CYS410TYR	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0009	Disease	p.GLU280ALA	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0013	Disease	p.GLU120ASP	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0010	Disease	p.GLU280GLY	ALZHEIMER DISEASE, FAMILIAL, 3\|\|ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL\|\|PLAQUES, INCLUDED
OMIM	104311.0021	Disease	p.GLY206ALA	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0037	Disease	p.GLY217ARG	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
OMIM	104311.0022	Disease	p.GLY266SER	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
OMIM	104311.0027	Disease	p.GLY183VAL	PICK DISEASE OF BRAIN
OMIM	104311.0002	Disease	p.HIS163ARG	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0008	Disease	p.HIS163TYR	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0025	Disease	p.LEU174MET	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0023	Disease	p.LEU113PRO	DEMENTIA, FRONTOTEMPORAL
OMIM	104311.0024	Disease	p.LEU166PRO	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0031	Disease	p.LEU85PRO	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
OMIM	104311.0016	Disease	p.LEU250SER	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0026	Disease	p.LEU271VAL	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
OMIM	104311.0004	Disease	p.LEU286VAL	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0015	Disease	p.MET146ILE	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0001	Disease	p.MET146LEU	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0006	Disease	p.MET139VAL	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0007	Disease	p.MET146VAL	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0028	Disease	p.PRO436GLN	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0011	Disease	p.PRO267SER	ALZHEIMER DISEASE, FAMILIAL, 3
OMIM	104311.0036	Disease	p.SER170PHE	ALZHEIMER DISEASE, FAMILIAL, 3

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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