Results for the protein: P05067

Results for the Protein: P05067

112927

351

APP

NCBI, UniProt

A4_HUMAN RecName: Full=Amyloid beta A4 protein; AltName: Full=ABPP; AltName: Full=APPI; Short=APP; AltName: Full=Alzheimer disease amyloid protein; AltName: Full=Cerebral vascular amyloid peptide; Short=CVAP; AltName: Full=PreA4; AltName: Full=Protease nexin-II; Short=PN-II; Contains: RecName: Full=N-APP; Contains: RecName: Full=Soluble APP-alpha; Short=S-APP-alpha; Contains: RecName: Full=Soluble APP-beta; Short=S-APP-beta; Contains: RecName: Full=C99; Contains: RecName: Full=Beta-amyloid protein 42; AltName: Full=Beta-APP42; Contains: RecName: Full=Beta-amyloid protein 40; AltName: Full=Beta-APP40; Contains: RecName: Full=C83; Contains: RecName: Full=P3(42); Contains: RecName: Full=P3(40); Contains: RecName: Full=C80; Contains: RecName: Full=Gamma-secretase C-terminal fragment 59; AltName: Full=Amyloid intracellular domain 59; Short=AICD-59; Short=AID(59); AltName: Full=Gamma-CTF(59); Contains: RecName: Full=Gamma-secretase C-terminal fragment 57; AltName: Full

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE 1 (AD1)
  ALZHEIMER DISEASE, FAMILIAL, 1
  ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
  ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
  ALZHEIMER DISEASE, PROTECTION AGAINST
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (CAA-APP)
  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

37

3

20

0

20

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: A4_EXTRA - smart00006 KU - smart00131 APP_amyloid - pfam10515	Swiss-Prot Protein: P05067 Identical to: NP_000475 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KU	smart00131	1.1e-26	289	341
APP_amyloid	pfam10515	1.3e-36	714	766

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000016	Disease	p.ALA692GLY	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_000019	Disease	p.ALA713THR	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_000018	Polymorphism	p.ALA713VAL	N/A
Swiss-Prot	VAR_044424	Disease	p.ASP678ASN	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_014217	Disease	p.ASP694ASN	Cerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-Prot	VAR_010107	Polymorphism	p.GLU665ASP	N/A
Swiss-Prot	VAR_000017	Disease	p.GLU693GLN	Cerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-Prot	VAR_014215	Disease	p.GLU693GLY	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_022315	Polymorphism	p.GLU501LYS	N/A
Swiss-Prot	VAR_014216	Disease	p.GLU693LYS	Cerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-Prot	VAR_000020	Disease	p.ILE716VAL	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_010109	Disease	p.LEU723PRO	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_032276	Disease	p.LEU705VAL	Cerebral amyloid angiopathy, APP-related (CAA-APP)
Swiss-Prot	VAR_032277	Disease	p.THR714ALA	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_014218	Disease	p.THR714ILE	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_000022	Disease	p.VAL717GLY	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_000021	Disease	p.VAL717ILE	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_014219	Disease	p.VAL717LEU	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_010108	Disease	p.VAL715MET	Alzheimer disease 1 (AD1)
Swiss-Prot	VAR_000023	Disease	p.VAL717PHE	Alzheimer disease 1 (AD1)
OMIM	104760.0005	Disease	p.ALA692GLY	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT\|\|ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
OMIM	104760.0023	Disease	p.ALA673THR	ALZHEIMER DISEASE, PROTECTION AGAINST
OMIM	104760.0009	Disease	p.ALA713THR	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0022	Disease	p.ALA673VAL	ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
OMIM	104760.0016	Disease	p.ASN694ASP	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
OMIM	104760.0010	Disease	p.GLU665ASP	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0001	Disease	p.GLU693GLN	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
OMIM	104760.0013	Disease	p.GLU693GLY	ALZHEIMER DISEASE, FAMILIAL, 1\|\|CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
OMIM	104760.0014	Disease	p.GLU693LYS	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
OMIM	104760.0011	Disease	p.ILE716VAL	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0019	Disease	p.LEU705VAL	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
OMIM	104760.0008	Disease	p.LYS670ASN	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0008	Disease	p.MET671LEU	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0017	Disease	p.THR714ALA	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0015	Disease	p.THR714ILE	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0004	Disease	p.VAL717GLY	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0002	Disease	p.VAL717ILE	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0021	Disease	p.VAL717LEU	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0012	Disease	p.VAL715MET	ALZHEIMER DISEASE, FAMILIAL, 1
OMIM	104760.0003	Disease	p.VAL717PHE	ALZHEIMER DISEASE, FAMILIAL, 1

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258