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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 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]


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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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO:9246 cerebral amyloid angiopathy UniProtKB_VAR:VAR_014216
PR:000025564 hAPP/var:E693Q
Example: UniProtKB:P05067-1, Glu-693, CHEBI:30011
associated_with_disease_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO:10652 Alzheimer's disease PMID:10665499; UniProtKB_VAR:VAR_010109
PR:000025591 hAPP/var:A673T
Example: UniProtKB:P05067-1, Ala-673, CHEBI:30013
located_inD10652 Alzheimer's disease Alzforum:app-a673t-icelandic
PR:000025594 hAPP/var:V715A
Example: UniProtKB:P05067-1, Val-715, CHEBI:46217
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-v715a-german
PR:000025595 hAPP/var:I716F
Example: UniProtKB:P05067-1, Ile-716, CHEBI:29997
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-i716f-iberian
PR:000025596 hAPP/var:I716T
Example: UniProtKB:P05067-1, Ile-716, CHEBI:30013
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-i716t
PR:000025597 hAPP/var:T719P
Example: UniProtKB:P05067-1, Thr-719, CHEBI:50342
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-t719p
PR:000025598 hAPP/var:K724N
Example: UniProtKB:P05067-1, Lys-724, CHEBI:50347
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-k724n-belgian
PR:000025599 hAPP/var:E682K
Example: UniProtKB:P05067-1, Glu-682, CHEBI:29967
associated_with_disease_progressionDO: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_progressionDO:10652 Alzheimer's disease UniProtKB_VAR:VAR_000015
PR:000025602 hAPP/var:E693del
Example: UniProtKB:P05067-1, 1-692, 694-770
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-e693del-osaka
PR:000036990 hAPP/var:I716M
Example: UniProtKB:P05067-1, Ile-716, CHEBI:16044
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-i716m
PR:000036991 hAPP/var:M722K
Example: UniProtKB:P05067-1, Met-722, CHEBI:29967
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-m722k
PR:000037518 hAPP/var:A673V
Example: UniProtKB:P05067-1, Ala-673, CHEBI:30015
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-a673v
PR:000037519 hAPP/var:D678H
Example: UniProtKB:P05067-1, Asp-678, CHEBI:29979
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-d678h-taiwanese
PR:000037520 hAPP/var:K687N
Example: UniProtKB:P05067-1, Lys-687, CHEBI:50347
associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:app-k687n