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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 nameamyloid-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] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:P05067 amyloid-beta precursor protein (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 55                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
organism-sequence


PR:000025558 amyloid-beta precursor protein sequence variant (human)
hAPP/var+

organism-sequence


PR:000025560 amyloid-beta precursor protein sequence variant D678N (human)
hAPP/var:D678N
Yes
organism-sequence


PR:000025561 amyloid-beta precursor protein sequence variant A692G (human)
hAPP/var:A692G
Yes
organism-sequence


PR:000025562 amyloid-beta precursor protein sequence variant E693G (human)
hAPP/var:E693G
Yes
organism-sequence


PR:000025563 amyloid-beta precursor protein sequence variant E693K (human)
hAPP/var:E693K
Yes
organism-sequence


PR:000025564 amyloid-beta precursor protein sequence variant E693Q (human)
hAPP/var:E693Q
Yes
organism-sequence


PR:000025565 amyloid-beta precursor protein sequence variant D694N (human)
hAPP/var:D694N
Yes
organism-sequence


PR:000025566 amyloid-beta precursor protein sequence variant L705V (human)
hAPP/var:L705V
Yes
organism-sequence


PR:000025567 amyloid-beta precursor protein sequence variant A713T (human)
hAPP/var:A713T
Yes
organism-sequence


PR:000025568 amyloid-beta precursor protein sequence variant T714A (human)
hAPP/var:T714A
Yes
organism-sequence


PR:000025569 amyloid-beta precursor protein sequence variant T714I (human)
hAPP/var:T714I
Yes
organism-sequence


PR:000025570 amyloid-beta precursor protein sequence variant V715M (human)
hAPP/var:V715M
Yes
organism-sequence


PR:000025571 amyloid-beta precursor protein sequence variant I716V (human)
hAPP/var:I716V
Yes
organism-sequence


PR:000025572 amyloid-beta precursor protein sequence variant V717F (human)
hAPP/var:V717F
Yes
organism-sequence


PR:000025573 amyloid-beta precursor protein sequence variant V717G (human)
hAPP/var:V717G
Yes
organism-sequence


PR:000025574 amyloid-beta precursor protein sequence variant V717I (human)
hAPP/var:V717I
Yes
organism-sequence


PR:000025575 amyloid-beta precursor protein sequence variant V717L (human)
hAPP/var:V717L
Yes
organism-sequence


PR:000025576 amyloid-beta precursor protein sequence variant L723P (human)
hAPP/var:L723P
Yes
organism-sequence


PR:000025590 amyloid-beta precursor protein sequence variant E665D (human)
hAPP/var:E665D

organism-sequence


PR:000025591 amyloid-beta precursor protein sequence variant A673T (human)
hAPP/var:A673T
Yes
organism-sequence


PR:000025592 amyloid-beta precursor protein sequence variant H677R (human)
hAPP/var:H677R

organism-sequence


PR:000025593 amyloid-beta precursor protein sequence variant A713V (human)
hAPP/var:A713V

organism-sequence


PR:000025594 amyloid-beta precursor protein sequence variant V715A (human)
hAPP/var:V715A
Yes
organism-sequence


PR:000025595 amyloid-beta precursor protein sequence variant I716F (human)
hAPP/var:I716F
Yes
organism-sequence


PR:000025596 amyloid-beta precursor protein sequence variant I716T (human)
hAPP/var:I716T
Yes
organism-sequence


PR:000025597 amyloid-beta precursor protein sequence variant T719P (human)
hAPP/var:T719P
Yes
organism-sequence


PR:000025598 amyloid-beta precursor protein sequence variant K724N (human)
hAPP/var:K724N
Yes
organism-sequence


PR:000025599 amyloid-beta precursor protein sequence variant E682K (human)
hAPP/var:E682K
Yes
organism-sequence


PR:000025600 amyloid-beta precursor protein sequence variant H733P (human)
hAPP/var:H733P

organism-sequence


PR:000025601 amyloid-beta precursor protein sequence variant KM670/671NL (human)
hAPP/var:KM670/671NL
Yes
organism-sequence


PR:000025602 amyloid-beta precursor protein sequence variant E693del (human)
hAPP/var:E693del
Yes
organism-sequence


PR:000028706 amyloid-beta precursor protein sequence variant E501K (human)
hAPP/var:E501K

organism-sequence


PR:000036990 amyloid-beta precursor protein sequence variant I716M (human)
hAPP/var:I716M
Yes
organism-sequence


PR:000036991 amyloid-beta precursor protein sequence variant M722K (human)
hAPP/var:M722K
Yes
organism-sequence


PR:000037518 amyloid-beta precursor protein sequence variant A673V (human)
hAPP/var:A673V
Yes
organism-sequence


PR:000037519 amyloid-beta precursor protein sequence variant D678H (human)
hAPP/var:D678H
Yes
organism-sequence


PR:000037520 amyloid-beta precursor protein sequence variant K687N (human)
hAPP/var:K687N
Yes
organism-sequence


PR:000045407 amyloid-beta precursor protein sequence variant A201V (human)
hAPP/var:A201V

organism-sequence


PR:000045408 amyloid-beta precursor protein sequence variant A235V (human)
hAPP/var:A235V

organism-sequence


PR:000045409 amyloid-beta precursor protein sequence variant D243N (human)
hAPP/var:D243N

organism-sequence


PR:000045410 amyloid-beta precursor protein sequence variant E246K (human)
hAPP/var:E246K

organism-sequence


PR:000045411 amyloid-beta precursor protein sequence variant E296K (human)
hAPP/var:E296K

organism-sequence


PR:000045412 amyloid-beta precursor protein sequence variant P299L (human)
hAPP/var:P299L

organism-sequence


PR:000045413 amyloid-beta precursor protein sequence variant R468H (human)
hAPP/var:R468H

organism-sequence


PR:000045414 amyloid-beta precursor protein sequence variant A479S (human)
hAPP/var:A479S

organism-sequence


PR:000045415 amyloid-beta precursor protein sequence variant K496Q (human)
hAPP/var:K496Q

organism-sequence


PR:000045416 amyloid-beta precursor protein sequence variant A500T (human)
hAPP/var:A500T

organism-sequence


PR:000045417 amyloid-beta precursor protein sequence variant Y538H (human)
hAPP/var:Y538H

organism-sequence


PR:000045418 amyloid-beta precursor protein sequence variant V562I (human)
hAPP/var:V562I

organism-sequence


PR:000045419 amyloid-beta precursor protein sequence variant E599K (human)
hAPP/var:E599K

organism-sequence


PR:000045420 amyloid-beta precursor protein sequence variant T600M (human)
hAPP/var:T600M

organism-sequence


PR:000045421 amyloid-beta precursor protein sequence variant P620L (human)
hAPP/var:P620L

organism-sequence


PR:000045422 amyloid-beta precursor protein sequence variant P620A (human)
hAPP/var:P620A

organism-sequence


PR:000045423 amyloid-beta precursor protein sequence variant T663M (human)
hAPP/var:T663M

organism-sequence


PR:000045424 amyloid-beta precursor protein sequence variant G709S (human)
hAPP/var:G709S

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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:10652 Alzheimer's diseasePR:000025560 hAPP/var:D678N PMID:15201367; UniProtKB_VAR:VAR_044424
PR:000025561 hAPP/var:A692G PMID:11311152; PMID:1303239; PMID:9754958; UniProtKB_VAR:VAR_000016
PR:000025562 hAPP/var:E693G PMID:11528419; PMID:1415269; UniProtKB_VAR:VAR_014215
PR:000025565 hAPP/var:D694N Alzforum:app-d694n-iowa
PR:000025567 hAPP/var:A713T PMID:1303275; PMID:15365148; UniProtKB_VAR:VAR_000019
PR:000025568 hAPP/var:T714A PMID:12034808; UniProtKB_VAR:VAR_032277
PR:000025569 hAPP/var:T714I PMID:11063718; PMID:15668448; UniProtKB_VAR:VAR_014218
PR:000025570 hAPP/var:V715M PMID:10097173; UniProtKB_VAR:VAR_010108
PR:000025571 hAPP/var:I716V PMID:9328472; UniProtKB_VAR:VAR_000020
PR:000025572 hAPP/var:V717F PMID:1925564; PMID:8267572; PMID:8290042; PMID:8476439; UniProtKB_VAR:VAR_000023
PR:000025573 hAPP/var:V717G PMID:1944558; PMID:8476439; UniProtKB_VAR:VAR_000022
PR:000025574 hAPP/var:V717I PMID:10631141; PMID:1671712; PMID:1678058; PMID:1908231; PMID:8267572; PMID:8476439; PMID:8577393; UniProtKB_VAR:VAR_000021
PR:000025575 hAPP/var:V717L PMID:10867787; UniProtKB_VAR:VAR_014219
PR:000025576 hAPP/var:L723P PMID:10665499; UniProtKB_VAR:VAR_010109
PR:000025594 hAPP/var:V715A Alzforum:app-v715a-german
PR:000025595 hAPP/var:I716F Alzforum:app-i716f-iberian
PR:000025596 hAPP/var:I716T Alzforum:app-i716t
PR:000025597 hAPP/var:T719P Alzforum:app-t719p
PR:000025598 hAPP/var:K724N Alzforum:app-k724n-belgian
PR:000025599 hAPP/var:E682K Alzforum:app-e682k-leuven
PR:000025601 hAPP/var:KM670/671NL UniProtKB_VAR:VAR_000015
PR:000025602 hAPP/var:E693del Alzforum:app-e693del-osaka
PR:000036990 hAPP/var:I716M Alzforum:app-i716m
PR:000036991 hAPP/var:M722K Alzforum:app-m722k
PR:000037518 hAPP/var:A673V Alzforum:app-a673v
PR:000037519 hAPP/var:D678H Alzforum:app-d678h-taiwanese
PR:000037520 hAPP/var:K687N Alzforum:app-k687n
DO:9246 cerebral amyloid angiopathyPR:000025563 hAPP/var:E693K UniProtKB_VAR:VAR_014216
PR:000025564 hAPP/var:E693Q PMID:2111584; UniProtKB_VAR:VAR_000017
PR:000025565 hAPP/var:D694N PMID:11409420; PMID:12654973; UniProtKB_VAR:VAR_014217
PR:000025566 hAPP/var:L705V PMID:16178030; UniProtKB_VAR:VAR_032276
PR:000025567 hAPP/var:A713T Alzforum:app-a713t

Cellular Location GO Term
Protein Forms & Complexes
Evidence
D10652 Alzheimer's diseasePR:000025591 hAPP/var:A673T Alzforum:app-a673t-icelandic