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Protein Ontology report - presenilin-2 sequence variant (human)
PR:000036286 - http://purl.obolibrary.org/obo/PR_000036286
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:000036286   
  PRO namepresenilin-2 sequence variant (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN2/var+
  Definition"A presenilin-2 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-2 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-2 (human). Operationally, this means the sequence representation of the presenilin-2 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represened by UniProtKB:P49810-1." [PRO:DAN] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:P49810 presenilin-2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 46                                        
         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:000036286 presenilin-2 sequence variant (human)
hPSEN2/var+

organism-sequence


PR:000037741 presenilin-2 sequence variant R29H (human)
hPSEN2/var:R29H

organism-sequence


PR:000037742 presenilin-2 sequence variant G34S (human)
hPSEN2/var:G34S

organism-sequence


PR:000037743 presenilin-2 sequence variant R62H (human)
hPSEN2/var:R62H

organism-sequence


PR:000037744 presenilin-2 sequence variant R62C (human)
hPSEN2/var:R62C

organism-sequence


PR:000037745 presenilin-2 sequence variant P69A (human)
hPSEN2/var:P69A

organism-sequence


PR:000037746 presenilin-2 sequence variant R71W (human)
hPSEN2/var:R71W

organism-sequence


PR:000037747 presenilin-2 sequence variant A85V (human)
hPSEN2/var:A85V
Yes
organism-sequence


PR:000037748 presenilin-2 sequence variant T122P (human)
hPSEN2/var:T122P
Yes
organism-sequence


PR:000037749 presenilin-2 sequence variant T122R (human)
hPSEN2/var:T122R

organism-sequence


PR:000037750 presenilin-2 sequence variant E126K (human)
hPSEN2/var:E126K
Yes
organism-sequence


PR:000037751 presenilin-2 sequence variant S130L (human)
hPSEN2/var:S130L

organism-sequence


PR:000037752 presenilin-2 sequence variant V139M (human)
hPSEN2/var:V139M

organism-sequence


PR:000037753 presenilin-2 sequence variant N141I (human)
hPSEN2/var:N141I
Yes
organism-sequence


PR:000037754 presenilin-2 sequence variant N141Y (human)
hPSEN2/var:N141Y
Yes
organism-sequence


PR:000037755 presenilin-2 sequence variant L143H (human)
hPSEN2/var:L143H

organism-sequence


PR:000037756 presenilin-2 sequence variant V148I (human)
hPSEN2/var:V148I
Yes
organism-sequence


PR:000037757 presenilin-2 sequence variant R163H (human)
hPSEN2/var:R163H

organism-sequence


PR:000037758 presenilin-2 sequence variant M174V (human)
hPSEN2/var:M174V

organism-sequence


PR:000037759 presenilin-2 sequence variant S175C (human)
hPSEN2/var:S175C
Yes
organism-sequence


PR:000037760 presenilin-2 sequence variant V214L (human)
hPSEN2/var:V214L
Yes
organism-sequence


PR:000037761 presenilin-2 sequence variant Q228L (human)
hPSEN2/var:Q228L
Yes
organism-sequence


PR:000037762 presenilin-2 sequence variant Y231C (human)
hPSEN2/var:Y231C

organism-sequence


PR:000037763 presenilin-2 sequence variant M239V (human)
hPSEN2/var:M239V
Yes
organism-sequence


PR:000037764 presenilin-2 sequence variant M239I (human)
hPSEN2/var:M239I
Yes
organism-sequence


PR:000037765 presenilin-2 sequence variant A252T (human)
hPSEN2/var:A252T

organism-sequence


PR:000037766 presenilin-2 sequence variant P334R (human)
hPSEN2/var:P334R

organism-sequence


PR:000037767 presenilin-2 sequence variant V393M (human)
hPSEN2/var:V393M

organism-sequence


PR:000037768 presenilin-2 sequence variant T430M (human)
hPSEN2/var:T430M
Yes
organism-sequence


PR:000037769 presenilin-2 sequence variant D439A (human)
hPSEN2/var:D439A

organism-sequence


PR:000044560 presenilin-2 sequence variant G212V (human)
hPSEN2/var:G212V
Yes
organism-sequence


PR:000044561 presenilin-2 sequence variant L238P (human)
hPSEN2/var:L238P
Yes
organism-sequence


PR:000044562 presenilin-2 sequence variant P348L (human)
hPSEN2/var:P348L

organism-sequence


PR:000044563 presenilin-2 sequence variant T18M (human)
hPSEN2/var:T18M

organism-sequence


PR:000045476 presenilin-2 sequence variant K82R (human)
hPSEN2/var:K82R

organism-sequence


PR:000045477 presenilin-2 sequence variant V101M (human)
hPSEN2/var:V101M

organism-sequence


PR:000045478 presenilin-2 sequence variant P123L (human)
hPSEN2/var:P123L

organism-sequence


PR:000045479 presenilin-2 sequence variant K161R (human)
hPSEN2/var:K161R
Yes
organism-sequence


PR:000045480 presenilin-2 sequence variant H169N (human)
hPSEN2/var:H169N

organism-sequence


PR:000045481 presenilin-2 sequence variant I235F (human)
hPSEN2/var:I235F

organism-sequence


PR:000045482 presenilin-2 sequence variant A237V (human)
hPSEN2/var:A237V

organism-sequence


PR:000045483 presenilin-2 sequence variant L238F (human)
hPSEN2/var:L238F

organism-sequence


PR:000045484 presenilin-2 sequence variant A258T (human)
hPSEN2/var:A258T

organism-sequence


PR:000045485 presenilin-2 sequence variant T301M (human)
hPSEN2/var:T301M

organism-sequence


PR:000045486 presenilin-2 sequence variant P334A (human)
hPSEN2/var:P334A

organism-sequence


PR:000045487 presenilin-2 sequence variant A377V (human)
hPSEN2/var:A377V

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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000037747 hPSEN2/var:A85V
Example: UniProtKB:P49810-1, Ala-85, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-a85v
PR:000037748 hPSEN2/var:T122P
Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-t122p
PR:000037750 hPSEN2/var:E126K
Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-e126k
PR:000037753 hPSEN2/var:N141I
Example: UniProtKB:P49810-1, Asn-141, CHEBI:30009		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-n141i-volga-german
PR:000037754 hPSEN2/var:N141Y
Example: UniProtKB:P49810-1, Asn-141, CHEBI:46858		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-n141y
PR:000037756 hPSEN2/var:V148I
Example: UniProtKB:P49810-1, Val-148, CHEBI:30009		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-v148i
PR:000037759 hPSEN2/var:S175C
Example: UniProtKB:P49810-1, Ser-175, CHEBI:29950		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-s175c
PR:000037760 hPSEN2/var:V214L
Example: UniProtKB:P49810-1, Val-214, CHEBI:30006		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-v214l
PR:000037761 hPSEN2/var:Q228L
Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-q228l
PR:000037763 hPSEN2/var:M239V
Example: UniProtKB:P49810-1, Met-239, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-m239v
PR:000037764 hPSEN2/var:M239I
Example: UniProtKB:P49810-1, Met-239, CHEBI:30009		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-m239i
PR:000037768 hPSEN2/var:T430M
Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-t430m
PR:000044560 hPSEN2/var:G212V
Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-g212v
PR:000044561 hPSEN2/var:L238P
Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-l238p
PR:000045479 hPSEN2/var:K161R
Example: UniProtKB:P49810-1, Lys-161, CHEBI:29952		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-k161r