PRO Term |
GO Annotation |
Evidence |
PR:000025601
hAPP/var:KM670/671NL
Lys-670, CHEBI:50347|Met-671, CHEBI:30006
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
UniProtKB_VAR:VAR_000015 |
PR:000036991
hAPP/var:M722K
Met-722, CHEBI:29967
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-m722k |
PR:000036990
hAPP/var:I716M
Ile-716, CHEBI:16044
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-i716m |
PR:000037518
hAPP/var:A673V
Ala-673, CHEBI:30015
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-a673v |
PR:000037519
hAPP/var:D678H
Asp-678, CHEBI:29979
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-d678h-taiwanese |
PR:000025571
hAPP/var:I716V
Ile-716, CHEBI:30015
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:9328472, UniProtKB_VAR:VAR_000020 |
PR:000025576
hAPP/var:L723P
Leu-723, CHEBI:50342
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:10665499, UniProtKB_VAR:VAR_010109 |
PR:000025570
hAPP/var:V715M
Val-715, CHEBI:16044
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:10097173, UniProtKB_VAR:VAR_010108 |
PR:000025598
hAPP/var:K724N
Lys-724, CHEBI:50347
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-k724n-belgian |
PR:000025573
hAPP/var:V717G
Val-717, CHEBI:29947
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:1944558, PMID:8476439, UniProtKB_VAR:VAR_000022 |
PR:000025591
hAPP/var:A673T
Ala-673, CHEBI:30013
|
associated_with_disease_suppression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-a673t-icelandic |
PR:000025572
hAPP/var:V717F
Val-717, CHEBI:29997
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:1925564, PMID:8267572, PMID:8290042, PMID:8476439, UniProtKB_VAR:VAR_000023 |
PR:000025574
hAPP/var:V717I
Val-717, CHEBI:30009
|
associated_with_disease_progression |
DOID: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
Val-717, CHEBI:30006
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:10867787, UniProtKB_VAR:VAR_014219 |
PR:000037520
hAPP/var:K687N
Lys-687, CHEBI:50347
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-k687n |
PR:000025597
hAPP/var:T719P
Thr-719, CHEBI:50342
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-t719p |
PR:000025596
hAPP/var:I716T
Ile-716, CHEBI:30013
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-i716t |
PR:000025595
hAPP/var:I716F
Ile-716, CHEBI:29997
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-i716f-iberian |
PR:000025594
hAPP/var:V715A
Val-715, CHEBI:46217
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-v715a-german |
PR:000025599
hAPP/var:E682K
Glu-682, CHEBI:29967
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-e682k-leuven |
PR:000025602
hAPP/var:E693del
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-e693del-osaka |
PR:000025568
hAPP/var:T714A
Thr-714, CHEBI:46217
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:12034808, UniProtKB_VAR:VAR_032277 |
PR:000025569
hAPP/var:T714I
Thr-714, CHEBI:30009
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:11063718, PMID:15668448, UniProtKB_VAR:VAR_014218 |
PR:000025566
hAPP/var:L705V
Leu-705, CHEBI:30015
|
associated_with_disease_progression |
DOID:9246 cerebral amyloid angiopathy
|
PMID:16178030, UniProtKB_VAR:VAR_032276 |
PR:000025567
hAPP/var:A713T
Ala-713, CHEBI:30013
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:1303275, PMID:15365148, UniProtKB_VAR:VAR_000019 |
associated_with_disease_progression |
DOID:9246 cerebral amyloid angiopathy
|
Alzforum:app-a713t |
PR:000025564
hAPP/var:E693Q
Glu-693, CHEBI:30011
|
associated_with_disease_progression |
DOID:9246 cerebral amyloid angiopathy
|
PMID:2111584, UniProtKB_VAR:VAR_000017 |
PR:000025565
hAPP/var:D694N
Asp-694, CHEBI:50347
|
associated_with_disease_progression |
DOID:9246 cerebral amyloid angiopathy
|
PMID:11409420, PMID:12654973, UniProtKB_VAR:VAR_014217 |
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
Alzforum:app-d694n-iowa |
PR:000025562
hAPP/var:E693G
Glu-693, CHEBI:29947
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:11528419, PMID:1415269, UniProtKB_VAR:VAR_014215 |
PR:000025563
hAPP/var:E693K
Glu-693, CHEBI:29967
|
associated_with_disease_progression |
DOID:9246 cerebral amyloid angiopathy
|
UniProtKB_VAR:VAR_014216 |
PR:000025560
hAPP/var:D678N
Asp-678, CHEBI:50347
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:15201367, UniProtKB_VAR:VAR_044424 |
PR:000025561
hAPP/var:A692G
Ala-692, CHEBI:29947
|
associated_with_disease_progression |
DOID:10652 Alzheimer's disease
|
PMID:11311152, PMID:1303239, PMID:9754958, UniProtKB_VAR:VAR_000016 |
|