Home
|
Linked Open Data
|
Browse
|
Search
|
Statistics
|
Download
RACE-PRO
PRO tracker
Community
PRO Consortium
Publications
Documentation
Protein Ontology report - amyloid-beta precursor protein sequence variant (human)
PR:000025558 -
http://purl.obolibrary.org/obo/PR_000025558
Protein Forms
Annotations
Ontology Information
Show OBO stanza
/
GPI
PRO ID
PR:000025558
PRO name
amyloid-beta precursor protein sequence variant (human)
Synonyms
PRO-Short-label
:
EXACT:
hAPP/var+
Definition
"An amyloid-beta precursor protein (human) that has at least one amino acid residue that differs from the corresponding residue found in another amyloid-beta precursor protein (human) when such a difference arises as the result of genetic differences, i.e., different alleles of amyloid-beta precursor protein (human). Operationally, this means the sequence representation of the amyloid-beta precursor protein (human) has at least one amino acid residue that differs from the corresponding residue found of the amino acid sequence represented by
UniProtKB:P05067-1
." [PRO:DAN]
Comment
Requested by=Alzforum.
PRO Category
organism-sequence
Parent
PR:P05067
amyloid-beta precursor protein (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Sequence
0
Organism-Sequence
55
Modification
0
Organism-Modification
0
Term Hierarchy
Visualization
DAG:
OLS:
Back to top
Protein Forms
Switch to
Compact View
Category
PRO ID
Name
Short Name
Definition
Ann.
Has Annotation?
Comp.
In Complex?
organism-sequence
PR:000025558
amyloid-beta precursor protein sequence variant (human)
hAPP/var+
"An amyloid-beta precursor protein (human) that has at least one amino acid residue that differs from the corresponding residue found in another amyloid-beta precursor protein (human) when such a difference arises as the result of genetic differences, i.e., different alleles of amyloid-beta precursor protein (human). Operationally, this means the sequence representation of the amyloid-beta precursor protein (human) has at least one amino acid residue that differs from the corresponding residue found of the amino acid sequence represented by UniProtKB:P05067-1." [PRO:DAN]
organism-sequence
PR:000025560
amyloid-beta precursor protein sequence variant D678N (human)
hAPP/var:D678N
"An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-678 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-678, CHEBI:50347." [PRO:DAN]
Yes
organism-sequence
PR:000025561
amyloid-beta precursor protein sequence variant A692G (human)
hAPP/var:A692G
"An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Ala-692 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-692, CHEBI:29947." [PRO:DAN]
Yes
organism-sequence
PR:000025562
amyloid-beta precursor protein sequence variant E693G (human)
hAPP/var:E693G
"An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:29947." [PRO:DAN]
Yes
organism-sequence
PR:000025563
amyloid-beta precursor protein sequence variant E693K (human)
hAPP/var:E693K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:29967." [PRO:DAN]
Yes
organism-sequence
PR:000025564
amyloid-beta precursor protein sequence variant E693Q (human)
hAPP/var:E693Q
"An amyloid-beta precursor protein sequence variant (human) that has a Gln residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:30011." [PRO:DAN]
Yes
organism-sequence
PR:000025565
amyloid-beta precursor protein sequence variant D694N (human)
hAPP/var:D694N
"An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-694 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-694, CHEBI:50347." [PRO:DAN]
Yes
organism-sequence
PR:000025566
amyloid-beta precursor protein sequence variant L705V (human)
hAPP/var:L705V
"An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Leu-705 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Leu-705, CHEBI:30015." [PRO:DAN]
Yes
organism-sequence
PR:000025567
amyloid-beta precursor protein sequence variant A713T (human)
hAPP/var:A713T
"An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ala-713 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-713, CHEBI:30013." [PRO:DAN]
Yes
organism-sequence
PR:000025568
amyloid-beta precursor protein sequence variant T714A (human)
hAPP/var:T714A
"An amyloid-beta precursor protein sequence variant (human) that has an Ala residue at the position equivalent to Thr-714 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-714, CHEBI:46217." [PRO:DAN]
Yes
organism-sequence
PR:000025569
amyloid-beta precursor protein sequence variant T714I (human)
hAPP/var:T714I
"An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Thr-714 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-714, CHEBI:30009." [PRO:DAN]
Yes
organism-sequence
PR:000025570
amyloid-beta precursor protein sequence variant V715M (human)
hAPP/var:V715M
"An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Val-715 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-715, CHEBI:16044." [PRO:DAN]
Yes
organism-sequence
PR:000025571
amyloid-beta precursor protein sequence variant I716V (human)
hAPP/var:I716V
"An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:30015." [PRO:DAN]
Yes
organism-sequence
PR:000025572
amyloid-beta precursor protein sequence variant V717F (human)
hAPP/var:V717F
"An amyloid-beta precursor protein sequence variant (human) that has a Phe residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:29997." [PRO:DAN]
Yes
organism-sequence
PR:000025573
amyloid-beta precursor protein sequence variant V717G (human)
hAPP/var:V717G
"An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:29947." [PRO:DAN]
Yes
organism-sequence
PR:000025574
amyloid-beta precursor protein sequence variant V717I (human)
hAPP/var:V717I
"An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:30009." [PRO:DAN]
Yes
organism-sequence
PR:000025575
amyloid-beta precursor protein sequence variant V717L (human)
hAPP/var:V717L
"An amyloid-beta precursor protein sequence variant (human) that has a Leu residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:30006." [PRO:DAN]
Yes
organism-sequence
PR:000025576
amyloid-beta precursor protein sequence variant L723P (human)
hAPP/var:L723P
"An amyloid-beta precursor protein sequence variant (human) that has a Pro residue at the position equivalent to Leu-723 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Leu-723, CHEBI:50342." [PRO:DAN]
Yes
organism-sequence
PR:000025590
amyloid-beta precursor protein sequence variant E665D (human)
hAPP/var:E665D
"An amyloid-beta precursor protein sequence variant (human) that has an Asp residue at the position equivalent to Glu-665 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-665, CHEBI:29958." [PRO:DAN]
organism-sequence
PR:000025591
amyloid-beta precursor protein sequence variant A673T (human)
hAPP/var:A673T
"An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ala-673 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-673, CHEBI:30013." [PRO:DAN]
Yes
organism-sequence
PR:000025592
amyloid-beta precursor protein sequence variant H677R (human)
hAPP/var:H677R
"An amyloid-beta precursor protein sequence variant (human) that has an Arg residue at the position equivalent to His-677 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, His-677, CHEBI:29952." [PRO:DAN]
organism-sequence
PR:000025593
amyloid-beta precursor protein sequence variant A713V (human)
hAPP/var:A713V
"An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-713 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-713, CHEBI:30015." [PRO:DAN]
organism-sequence
PR:000025594
amyloid-beta precursor protein sequence variant V715A (human)
hAPP/var:V715A
"An amyloid-beta precursor protein sequence variant (human) that has an Ala residue at the position equivalent to Val-715 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-715, CHEBI:46217." [PRO:DAN]
Yes
organism-sequence
PR:000025595
amyloid-beta precursor protein sequence variant I716F (human)
hAPP/var:I716F
"An amyloid-beta precursor protein sequence variant (human) that has a Phe residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:29997." [PRO:DAN]
Yes
organism-sequence
PR:000025596
amyloid-beta precursor protein sequence variant I716T (human)
hAPP/var:I716T
"An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:30013." [PRO:DAN]
Yes
organism-sequence
PR:000025597
amyloid-beta precursor protein sequence variant T719P (human)
hAPP/var:T719P
"An amyloid-beta precursor protein sequence variant (human) that has a Pro residue at the position equivalent to Thr-719 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-719, CHEBI:50342." [PRO:DAN]
Yes
organism-sequence
PR:000025598
amyloid-beta precursor protein sequence variant K724N (human)
hAPP/var:K724N
"An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Lys-724 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-724, CHEBI:50347." [PRO:DAN]
Yes
organism-sequence
PR:000025599
amyloid-beta precursor protein sequence variant E682K (human)
hAPP/var:E682K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-682 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-682, CHEBI:29967." [PRO:DAN]
Yes
organism-sequence
PR:000025600
amyloid-beta precursor protein sequence variant H733P (human)
hAPP/var:H733P
"An amyloid-beta precursor protein sequence variant (human) that has a Pro residue at the position equivalent to His-733 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, His-733, CHEBI:50342." [PRO:DAN]
organism-sequence
PR:000025601
amyloid-beta precursor protein sequence variant KM670/671NL (human)
hAPP/var:KM670/671NL
"An amyloid-beta precursor protein sequence variant (human) that has Asn and Leu residues at positions equivalent to Lys-670 and Met-671 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-670, CHEBI:50347|Met-671, CHEBI:30006." [PRO:DAN]
Yes
organism-sequence
PR:000025602
amyloid-beta precursor protein sequence variant E693del (human)
hAPP/var:E693del
"An amyloid-beta precursor protein sequence variant (human) that has a single-residue deletion at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, 1-692, 694-770." [PRO:DAN]
Yes
organism-sequence
PR:000028706
amyloid-beta precursor protein sequence variant E501K (human)
hAPP/var:E501K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-501 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-501, CHEBI:29967." [PRO:DAN]
organism-sequence
PR:000036990
amyloid-beta precursor protein sequence variant I716M (human)
hAPP/var:I716M
"An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:16044." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000036991
amyloid-beta precursor protein sequence variant M722K (human)
hAPP/var:M722K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Met-722 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Met-722, CHEBI:29967." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037518
amyloid-beta precursor protein sequence variant A673V (human)
hAPP/var:A673V
"An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-673 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-673, CHEBI:30015." [Alzforum:KD, PMID:19286555, PRO:DAN]
Yes
organism-sequence
PR:000037519
amyloid-beta precursor protein sequence variant D678H (human)
hAPP/var:D678H
"An amyloid-beta precursor protein sequence variant (human) that has a His residue at the position equivalent to Asp-678 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-678, CHEBI:29979." [Alzforum:KD, PMID:22558227, PRO:DAN]
Yes
organism-sequence
PR:000037520
amyloid-beta precursor protein sequence variant K687N (human)
hAPP/var:K687N
"An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Lys-687 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-687, CHEBI:50347." [Alzforum:KD, PMID:22514144, PRO:DAN]
Yes
organism-sequence
PR:000045407
amyloid-beta precursor protein sequence variant A201V (human)
hAPP/var:A201V
"An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-201 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-201, CHEBI:30015." [Alzforum:KD, PMID:25104557, PRO:DAN]
organism-sequence
PR:000045408
amyloid-beta precursor protein sequence variant A235V (human)
hAPP/var:A235V
"An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-235 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-235, CHEBI:30015." [Alzforum:KD, PMID:26242991, PRO:DAN]
organism-sequence
PR:000045409
amyloid-beta precursor protein sequence variant D243N (human)
hAPP/var:D243N
"An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-243 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-243, CHEBI:50347." [Alzforum:KD, PMID:26242991, PRO:DAN]
organism-sequence
PR:000045410
amyloid-beta precursor protein sequence variant E246K (human)
hAPP/var:E246K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-246 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-246, CHEBI:29967." [Alzforum:KD, PMID:25937274, PRO:DAN]
organism-sequence
PR:000045411
amyloid-beta precursor protein sequence variant E296K (human)
hAPP/var:E296K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-296 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-296, CHEBI:29967." [Alzforum:KD, PMID:26242991, PRO:DAN]
organism-sequence
PR:000045412
amyloid-beta precursor protein sequence variant P299L (human)
hAPP/var:P299L
"An amyloid-beta precursor protein sequence variant (human) that has a Leu residue at the position equivalent to Pro-299 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Pro-299, CHEBI:30006." [Alzforum:KD, PMID:26242991, PRO:DAN]
organism-sequence
PR:000045413
amyloid-beta precursor protein sequence variant R468H (human)
hAPP/var:R468H
"An amyloid-beta precursor protein sequence variant (human) that has a His residue at the position equivalent to Arg-468 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Arg-468, CHEBI:29979." [Alzforum:KD, PMID:25604855, PRO:DAN]
organism-sequence
PR:000045414
amyloid-beta precursor protein sequence variant A479S (human)
hAPP/var:A479S
"An amyloid-beta precursor protein sequence variant (human) that has a Ser residue at the position equivalent to Ala-479 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-479, CHEBI:29999." [Alzforum:KD, PMID:25937274, PRO:DAN]
organism-sequence
PR:000045415
amyloid-beta precursor protein sequence variant K496Q (human)
hAPP/var:K496Q
"An amyloid-beta precursor protein sequence variant (human) that has a Gln residue at the position equivalent to Lys-496 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-496, CHEBI:30011." [Alzforum:KD, PMID:24880964, PRO:DAN]
organism-sequence
PR:000045416
amyloid-beta precursor protein sequence variant A500T (human)
hAPP/var:A500T
"An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ala-500 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-500, CHEBI:30013." [Alzforum:KD, PMID:25604855, PRO:DAN]
organism-sequence
PR:000045417
amyloid-beta precursor protein sequence variant Y538H (human)
hAPP/var:Y538H
"An amyloid-beta precursor protein sequence variant (human) that has a His residue at the position equivalent to Tyr-538 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Tyr-538, CHEBI:29979." [Alzforum:KD, PMID:25104557, PRO:DAN]
organism-sequence
PR:000045418
amyloid-beta precursor protein sequence variant V562I (human)
hAPP/var:V562I
"An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Val-562 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-562, CHEBI:30009." [Alzforum:KD, PMID:25104557, PRO:DAN]
organism-sequence
PR:000045419
amyloid-beta precursor protein sequence variant E599K (human)
hAPP/var:E599K
"An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-599 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-599, CHEBI:29967." [Alzforum:KD, PMID:25104557, PRO:DAN]
organism-sequence
PR:000045420
amyloid-beta precursor protein sequence variant T600M (human)
hAPP/var:T600M
"An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Thr-600 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-600, CHEBI:16044." [Alzforum:KD, PMID:25604855, PRO:DAN]
organism-sequence
PR:000045421
amyloid-beta precursor protein sequence variant P620L (human)
hAPP/var:P620L
"An amyloid-beta precursor protein sequence variant (human) that has a Leu residue at the position equivalent to Pro-620 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Pro-620, CHEBI:30006." [Alzforum:KD, PMID:24880964, PRO:DAN]
organism-sequence
PR:000045422
amyloid-beta precursor protein sequence variant P620A (human)
hAPP/var:P620A
"An amyloid-beta precursor protein sequence variant (human) that has an Ala residue at the position equivalent to Pro-620 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Pro-620, CHEBI:46217." [Alzforum:KD, PMID:26242991, PRO:DAN]
organism-sequence
PR:000045423
amyloid-beta precursor protein sequence variant T663M (human)
hAPP/var:T663M
"An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Thr-663 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-663, CHEBI:16044." [Alzforum:KD, PMID:25604855, PRO:DAN]
organism-sequence
PR:000045424
amyloid-beta precursor protein sequence variant G709S (human)
hAPP/var:G709S
"An amyloid-beta precursor protein sequence variant (human) that has a Ser residue at the position equivalent to Gly-709 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Gly-709, CHEBI:29999." [Alzforum:KD, PMID:25604855, PRO:DAN]
Back to top
Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000025560
hAPP/var:D678N
Example: UniProtKB:P05067-1, Asp-678, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:15201367
; UniProtKB_VAR:VAR_044424
PR:000025561
hAPP/var:A692G
Example: UniProtKB:P05067-1, Ala-692, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:11311152
;
PMID:1303239
;
PMID:9754958
; UniProtKB_VAR:VAR_000016
PR:000025562
hAPP/var:E693G
Example: UniProtKB:P05067-1, Glu-693, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:11528419
;
PMID:1415269
; UniProtKB_VAR:VAR_014215
PR:000025563
hAPP/var:E693K
Example: UniProtKB:P05067-1, Glu-693, CHEBI:29967
associated_with_disease_progression
DO:9246
cerebral amyloid angiopathy
UniProtKB_VAR:VAR_014216
PR:000025564
hAPP/var:E693Q
Example: UniProtKB:P05067-1, Glu-693, CHEBI:30011
associated_with_disease_progression
DO:9246
cerebral amyloid angiopathy
PMID:2111584
; UniProtKB_VAR:VAR_000017
PR:000025565
hAPP/var:D694N
Example: UniProtKB:P05067-1, Asp-694, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-d694n-iowa
DO:9246
cerebral amyloid angiopathy
PMID:11409420
;
PMID:12654973
; UniProtKB_VAR:VAR_014217
PR:000025566
hAPP/var:L705V
Example: UniProtKB:P05067-1, Leu-705, CHEBI:30015
associated_with_disease_progression
DO:9246
cerebral amyloid angiopathy
PMID:16178030
; UniProtKB_VAR:VAR_032276
PR:000025567
hAPP/var:A713T
Example: UniProtKB:P05067-1, Ala-713, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:1303275
;
PMID:15365148
; UniProtKB_VAR:VAR_000019
DO:9246
cerebral amyloid angiopathy
Alzforum:app-a713t
PR:000025568
hAPP/var:T714A
Example: UniProtKB:P05067-1, Thr-714, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:12034808
; UniProtKB_VAR:VAR_032277
PR:000025569
hAPP/var:T714I
Example: UniProtKB:P05067-1, Thr-714, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:11063718
;
PMID:15668448
; UniProtKB_VAR:VAR_014218
PR:000025570
hAPP/var:V715M
Example: UniProtKB:P05067-1, Val-715, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:10097173
; UniProtKB_VAR:VAR_010108
PR:000025571
hAPP/var:I716V
Example: UniProtKB:P05067-1, Ile-716, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:9328472
; UniProtKB_VAR:VAR_000020
PR:000025572
hAPP/var:V717F
Example: UniProtKB:P05067-1, Val-717, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:1925564
;
PMID:8267572
;
PMID:8290042
;
PMID:8476439
; UniProtKB_VAR:VAR_000023
PR:000025573
hAPP/var:V717G
Example: UniProtKB:P05067-1, Val-717, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:1944558
;
PMID:8476439
; UniProtKB_VAR:VAR_000022
PR:000025574
hAPP/var:V717I
Example: UniProtKB:P05067-1, Val-717, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:10631141
;
PMID:1671712
;
PMID:1678058
;
PMID:1908231
;
PMID:8267572
;
PMID:8476439
;
PMID:8577393
; UniProtKB_VAR:VAR_000021
PR:000025575
hAPP/var:V717L
Example: UniProtKB:P05067-1, Val-717, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:10867787
; UniProtKB_VAR:VAR_014219
PR:000025576
hAPP/var:L723P
Example: UniProtKB:P05067-1, Leu-723, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
PMID:10665499
; UniProtKB_VAR:VAR_010109
PR:000025591
hAPP/var:A673T
Example: UniProtKB:P05067-1, Ala-673, CHEBI:30013
located_in
D10652
Alzheimer's disease
Alzforum:app-a673t-icelandic
PR:000025594
hAPP/var:V715A
Example: UniProtKB:P05067-1, Val-715, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-v715a-german
PR:000025595
hAPP/var:I716F
Example: UniProtKB:P05067-1, Ile-716, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-i716f-iberian
PR:000025596
hAPP/var:I716T
Example: UniProtKB:P05067-1, Ile-716, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-i716t
PR:000025597
hAPP/var:T719P
Example: UniProtKB:P05067-1, Thr-719, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-t719p
PR:000025598
hAPP/var:K724N
Example: UniProtKB:P05067-1, Lys-724, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-k724n-belgian
PR:000025599
hAPP/var:E682K
Example: UniProtKB:P05067-1, Glu-682, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-e682k-leuven
PR:000025601
hAPP/var:KM670/671NL
Example: UniProtKB:P05067-1, Lys-670, CHEBI:50347|Met-671, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
UniProtKB_VAR:VAR_000015
PR:000025602
hAPP/var:E693del
Example: UniProtKB:P05067-1, 1-692, 694-770
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-e693del-osaka
PR:000036990
hAPP/var:I716M
Example: UniProtKB:P05067-1, Ile-716, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-i716m
PR:000036991
hAPP/var:M722K
Example: UniProtKB:P05067-1, Met-722, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-m722k
PR:000037518
hAPP/var:A673V
Example: UniProtKB:P05067-1, Ala-673, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-a673v
PR:000037519
hAPP/var:D678H
Example: UniProtKB:P05067-1, Asp-678, CHEBI:29979
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-d678h-taiwanese
PR:000037520
hAPP/var:K687N
Example: UniProtKB:P05067-1, Lys-687, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:app-k687n