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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 name
presenilin-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]
Comment
Requested by=Alzforum.
PRO Category
organism-sequence
Parent
PR:P49810
presenilin-2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Sequence
0
Organism-Sequence
46
Modification
0
Organism-Modification
0
Term Hierarchy
Visualization
DAG:
OLS:
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Protein Forms
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Category
PRO ID
Name
Short Name
Definition
Ann.
Has Annotation?
Comp.
In Complex?
organism-sequence
PR:000036286
presenilin-2 sequence variant (human)
hPSEN2/var+
"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]
organism-sequence
PR:000037741
presenilin-2 sequence variant R29H (human)
hPSEN2/var:R29H
"A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-29 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-29, CHEBI:29979." [Alzforum:KD, PMID:18667258, PRO:DAN]
organism-sequence
PR:000037742
presenilin-2 sequence variant G34S (human)
hPSEN2/var:G34S
"A presenilin-2 sequence variant (human) that has a Ser residue at the position equivalent to Gly-34 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gly-34, CHEBI:29999." [Alzforum:KD, PMID:15130954, PRO:DAN]
organism-sequence
PR:000037743
presenilin-2 sequence variant R62H (human)
hPSEN2/var:R62H
"A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-62 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-62, CHEBI:29979." [Alzforum:KD, PMID:19768372, PMID:9384602, PRO:DAN]
organism-sequence
PR:000037744
presenilin-2 sequence variant R62C (human)
hPSEN2/var:R62C
"A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Arg-62 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-62, CHEBI:29950." [Alzforum:KD, PMID:15130954, PMID:17914065, PMID:18608129, PRO:DAN]
organism-sequence
PR:000037745
presenilin-2 sequence variant P69A (human)
hPSEN2/var:P69A
"A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Pro-69 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-69, CHEBI:46217." [Alzforum:KD, PMID:22221884, PRO:DAN]
organism-sequence
PR:000037746
presenilin-2 sequence variant R71W (human)
hPSEN2/var:R71W
"A presenilin-2 sequence variant (human) that has a Trp residue at the position equivalent to Arg-71 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-71, CHEBI:29954." [Alzforum:KD, PMID:15130954, PRO:DAN]
organism-sequence
PR:000037747
presenilin-2 sequence variant A85V (human)
hPSEN2/var:A85V
"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Ala-85 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-85, CHEBI:30015." [Alzforum:KD, PMID:18427071, PRO:DAN]
Yes
organism-sequence
PR:000037748
presenilin-2 sequence variant T122P (human)
hPSEN2/var:T122P
"A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Thr-122 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342." [Alzforum:KD, PMID:10631141, PRO:DAN]
Yes
organism-sequence
PR:000037749
presenilin-2 sequence variant T122R (human)
hPSEN2/var:T122R
"A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Thr-122 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-122, CHEBI:29952." [Alzforum:KD, PMID:14681895, PRO:DAN]
organism-sequence
PR:000037750
presenilin-2 sequence variant E126K (human)
hPSEN2/var:E126K
"A presenilin-2 sequence variant (human) that has a Lys residue at the position equivalent to Glu-126 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967." [Alzforum:KD, PMID:24844686, PRO:DAN]
Yes
organism-sequence
PR:000037751
presenilin-2 sequence variant S130L (human)
hPSEN2/var:S130L
"A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Ser-130 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ser-130, CHEBI:30006." [Alzforum:KD, PMID:14623725, PRO:DAN]
organism-sequence
PR:000037752
presenilin-2 sequence variant V139M (human)
hPSEN2/var:V139M
"A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Val-139 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-139, CHEBI:16044." [Alzforum:KD, PMID:18350357, PRO:DAN]
organism-sequence
PR:000037753
presenilin-2 sequence variant N141I (human)
hPSEN2/var:N141I
"A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Asn-141 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asn-141, CHEBI:30009." [Alzforum:KD, PMID:7638622, PMID:7651536, PRO:DAN]
Yes
organism-sequence
PR:000037754
presenilin-2 sequence variant N141Y (human)
hPSEN2/var:N141Y
"A presenilin-2 sequence variant (human) that has a Tyr residue at the position equivalent to Asn-141 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asn-141, CHEBI:46858." [Alzforum:KD, PMID:24838186, PRO:DAN]
Yes
organism-sequence
PR:000037755
presenilin-2 sequence variant L143H (human)
hPSEN2/var:L143H
"A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Leu-143 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-143, CHEBI:29979." [Alzforum:KD, PMID:18667258, PRO:DAN]
organism-sequence
PR:000037756
presenilin-2 sequence variant V148I (human)
hPSEN2/var:V148I
"A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Val-148 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-148, CHEBI:30009." [Alzforum:KD, PMID:10732806, PRO:DAN]
Yes
organism-sequence
PR:000037757
presenilin-2 sequence variant R163H (human)
hPSEN2/var:R163H
"A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-163 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-163, CHEBI:29979." [Alzforum:KD, PMID:19632874, PRO:DAN]
organism-sequence
PR:000037758
presenilin-2 sequence variant M174V (human)
hPSEN2/var:M174V
"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Met-174 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-174, CHEBI:30015." [Alzforum:KD, PMID:18667258, PMID:18846634, PRO:DAN]
organism-sequence
PR:000037759
presenilin-2 sequence variant S175C (human)
hPSEN2/var:S175C
"A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Ser-175 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ser-175, CHEBI:29950." [Alzforum:KD, PMID:20164579, PRO:DAN]
Yes
organism-sequence
PR:000037760
presenilin-2 sequence variant V214L (human)
hPSEN2/var:V214L
"A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Val-214 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-214, CHEBI:30006." [Alzforum:KD, PMID:24885952, PRO:DAN]
Yes
organism-sequence
PR:000037761
presenilin-2 sequence variant Q228L (human)
hPSEN2/var:Q228L
"A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Gln-228 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006." [Alzforum:KD, PMID:14769392, PRO:DAN]
Yes
organism-sequence
PR:000037762
presenilin-2 sequence variant Y231C (human)
hPSEN2/var:Y231C
"A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-231 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Tyr-231, CHEBI:29950." [Alzforum:KD, PMID:19276543, PRO:DAN]
organism-sequence
PR:000037763
presenilin-2 sequence variant M239V (human)
hPSEN2/var:M239V
"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Met-239 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-239, CHEBI:30015." [Alzforum:KD, PMID:7651536, PRO:DAN]
Yes
organism-sequence
PR:000037764
presenilin-2 sequence variant M239I (human)
hPSEN2/var:M239I
"A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Met-239 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-239, CHEBI:30009." [Alzforum:KD, PMID:10822446, PRO:DAN]
Yes
organism-sequence
PR:000037765
presenilin-2 sequence variant A252T (human)
hPSEN2/var:A252T
"A presenilin-2 sequence variant (human) that has a Thr residue at the position equivalent to Ala-252 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-252, CHEBI:30013." [Alzforum:KD, PMID:18667258, PRO:DAN]
organism-sequence
PR:000037766
presenilin-2 sequence variant P334R (human)
hPSEN2/var:P334R
"A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Pro-334 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-334, CHEBI:29952." [Alzforum:KD, PMID:11803125, PRO:DAN]
organism-sequence
PR:000037767
presenilin-2 sequence variant V393M (human)
hPSEN2/var:V393M
"A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Val-393 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-393, CHEBI:16044." [Alzforum:KD, PMID:18727676, PRO:DAN]
organism-sequence
PR:000037768
presenilin-2 sequence variant T430M (human)
hPSEN2/var:T430M
"A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-430 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044." [Alzforum:KD, PMID:12925374, PRO:DAN]
Yes
organism-sequence
PR:000037769
presenilin-2 sequence variant D439A (human)
hPSEN2/var:D439A
"A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Asp-439 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asp-439, CHEBI:46217." [Alzforum:KD, PMID:11723295, PRO:DAN]
organism-sequence
PR:000044560
presenilin-2 sequence variant G212V (human)
hPSEN2/var:G212V
"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Gly-212 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044561
presenilin-2 sequence variant L238P (human)
hPSEN2/var:L238P
"A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Leu-238 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044562
presenilin-2 sequence variant P348L (human)
hPSEN2/var:P348L
"A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Pro-348 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-348, CHEBI:30006." [Alzforum:KD, PRO:DAN]
organism-sequence
PR:000044563
presenilin-2 sequence variant T18M (human)
hPSEN2/var:T18M
"A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-18 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-18, CHEBI:16044." [Alzforum:KD, PRO:DAN]
organism-sequence
PR:000045476
presenilin-2 sequence variant K82R (human)
hPSEN2/var:K82R
"A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Lys-82 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Lys-82, CHEBI:29952." [Alzforum:KD, PMID:25323700, PRO:DAN]
organism-sequence
PR:000045477
presenilin-2 sequence variant V101M (human)
hPSEN2/var:V101M
"A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Val-101 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-101, CHEBI:16044." [Alzforum:KD, PMID:25937274, PRO:DAN]
organism-sequence
PR:000045478
presenilin-2 sequence variant P123L (human)
hPSEN2/var:P123L
"A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Pro-123 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-123, CHEBI:30006." [Alzforum:KD, PMID:26422362, PRO:DAN]
organism-sequence
PR:000045479
presenilin-2 sequence variant K161R (human)
hPSEN2/var:K161R
"A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Lys-161 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Lys-161, CHEBI:29952." [Alzforum:KD, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000045480
presenilin-2 sequence variant H169N (human)
hPSEN2/var:H169N
"A presenilin-2 sequence variant (human) that has an Asn residue at the position equivalent to His-169 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, His-169, CHEBI:50347." [Alzforum:KD, PMID:25323700, PRO:DAN]
organism-sequence
PR:000045481
presenilin-2 sequence variant I235F (human)
hPSEN2/var:I235F
"A presenilin-2 sequence variant (human) that has a Phe residue at the position equivalent to Ile-235 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ile-235, CHEBI:29997." [Alzforum:KD, PMID:25333068, PRO:DAN]
organism-sequence
PR:000045482
presenilin-2 sequence variant A237V (human)
hPSEN2/var:A237V
"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Ala-237 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-237, CHEBI:30015." [Alzforum:KD, PMID:25104557, PRO:DAN]
organism-sequence
PR:000045483
presenilin-2 sequence variant L238F (human)
hPSEN2/var:L238F
"A presenilin-2 sequence variant (human) that has a Phe residue at the position equivalent to Leu-238 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-238, CHEBI:29997." [Alzforum:KD, PMID:25937274, PRO:DAN]
organism-sequence
PR:000045484
presenilin-2 sequence variant A258T (human)
hPSEN2/var:A258T
"A presenilin-2 sequence variant (human) that has a Thr residue at the position equivalent to Ala-258 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-258, CHEBI:30013." [Alzforum:KD, PMID:25937274, PRO:DAN]
organism-sequence
PR:000045485
presenilin-2 sequence variant T301M (human)
hPSEN2/var:T301M
"A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-301 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-301, CHEBI:16044." [Alzforum:KD, PMID:15258222, PRO:DAN]
organism-sequence
PR:000045486
presenilin-2 sequence variant P334A (human)
hPSEN2/var:P334A
"A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Pro-334 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-334, CHEBI:46217." [Alzforum:KD, PMID:25333068, PRO:DAN]
organism-sequence
PR:000045487
presenilin-2 sequence variant A377V (human)
hPSEN2/var:A377V
"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Ala-377 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-377, CHEBI:30015." [Alzforum:KD, PMID:25333068, PRO:DAN]
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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_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-a85v
PR:000037748
hPSEN2/var:T122P
Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-t122p
PR:000037750
hPSEN2/var:E126K
Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-e126k
PR:000037753
hPSEN2/var:N141I
Example: UniProtKB:P49810-1, Asn-141, CHEBI:30009
associated_with_disease_progression
DO: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_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-n141y
PR:000037756
hPSEN2/var:V148I
Example: UniProtKB:P49810-1, Val-148, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-v148i
PR:000037759
hPSEN2/var:S175C
Example: UniProtKB:P49810-1, Ser-175, CHEBI:29950
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-s175c
PR:000037760
hPSEN2/var:V214L
Example: UniProtKB:P49810-1, Val-214, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-v214l
PR:000037761
hPSEN2/var:Q228L
Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-q228l
PR:000037763
hPSEN2/var:M239V
Example: UniProtKB:P49810-1, Met-239, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-m239v
PR:000037764
hPSEN2/var:M239I
Example: UniProtKB:P49810-1, Met-239, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-m239i
PR:000037768
hPSEN2/var:T430M
Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-t430m
PR:000044560
hPSEN2/var:G212V
Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-g212v
PR:000044561
hPSEN2/var:L238P
Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-l238p
PR:000045479
hPSEN2/var:K161R
Example: UniProtKB:P49810-1, Lys-161, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-k161r
