PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000037763 presenilin-2 sequence variant M239V (human) hPSEN2/var:M239V|UniProtKB:P49810-1, Met-239, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-m239v EXP NCBITaxon:9606 Alzforum:psen2-m239v 20180510 PRO:DAN PR:000037768 presenilin-2 sequence variant T430M (human) hPSEN2/var:T430M|UniProtKB:P49810-1, Thr-430, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-t430m EXP NCBITaxon:9606 Alzforum:psen2-t430m 20180510 PRO:DAN PR:000037748 presenilin-2 sequence variant T122P (human) hPSEN2/var:T122P|UniProtKB:P49810-1, Thr-122, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-t122p EXP NCBITaxon:9606 Alzforum:psen2-t122p 20180510 PRO:DAN PR:000045479 presenilin-2 sequence variant K161R (human) hPSEN2/var:K161R|UniProtKB:P49810-1, Lys-161, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-k161r EXP NCBITaxon:9606 Alzforum:psen2-k161r 20180510 PRO:DAN PR:000037759 presenilin-2 sequence variant S175C (human) hPSEN2/var:S175C|UniProtKB:P49810-1, Ser-175, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-s175c EXP NCBITaxon:9606 Alzforum:psen2-s175c 20180510 PRO:DAN PR:000037761 presenilin-2 sequence variant Q228L (human) hPSEN2/var:Q228L|UniProtKB:P49810-1, Gln-228, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-q228l EXP NCBITaxon:9606 Alzforum:psen2-q228l 20180510 PRO:DAN PR:000044560 presenilin-2 sequence variant G212V (human) hPSEN2/var:G212V|UniProtKB:P49810-1, Gly-212, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-g212v EXP NCBITaxon:9606 Alzforum:psen2-g212v 20180510 PRO:DAN PR:000037753 presenilin-2 sequence variant N141I (human) hPSEN2/var:N141I|UniProtKB:P49810-1, Asn-141, CHEBI:30009|Volga German PSEN2 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-n141i-volga-german EXP NCBITaxon:9606 Alzforum:psen2-n141i-volga-german 20180510 PRO:DAN PR:000037764 presenilin-2 sequence variant M239I (human) hPSEN2/var:M239I|UniProtKB:P49810-1, Met-239, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-m239i EXP NCBITaxon:9606 Alzforum:psen2-m239i 20180510 PRO:DAN PR:000037756 presenilin-2 sequence variant V148I (human) hPSEN2/var:V148I|UniProtKB:P49810-1, Val-148, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-v148i EXP NCBITaxon:9606 Alzforum:psen2-v148i 20180510 PRO:DAN PR:000037747 presenilin-2 sequence variant A85V (human) hPSEN2/var:A85V|UniProtKB:P49810-1, Ala-85, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-a85v EXP NCBITaxon:9606 Alzforum:psen2-a85v 20180510 PRO:DAN PR:000044561 presenilin-2 sequence variant L238P (human) hPSEN2/var:L238P|UniProtKB:P49810-1, Leu-238, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-l238p EXP NCBITaxon:9606 Alzforum:psen2-l238p 20180510 PRO:DAN PR:000037754 presenilin-2 sequence variant N141Y (human) hPSEN2/var:N141Y|UniProtKB:P49810-1, Asn-141, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-n141y EXP NCBITaxon:9606 Alzforum:psen2-n141y 20180510 PRO:DAN PR:000037750 presenilin-2 sequence variant E126K (human) hPSEN2/var:E126K|UniProtKB:P49810-1, Glu-126, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-e126k EXP NCBITaxon:9606 Alzforum:psen2-e126k 20180510 PRO:DAN PR:000037760 presenilin-2 sequence variant V214L (human) hPSEN2/var:V214L|UniProtKB:P49810-1, Val-214, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-v214l EXP NCBITaxon:9606 Alzforum:psen2-v214l 20180510 PRO:DAN