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organism-gene
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PR:P49810 |
presenilin-2 (human)
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hPSEN2
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"A presenilin-2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P49810]
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organism-sequence
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PR:000036286 |
presenilin-2 sequence variant (human)
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hPSEN2/var+
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"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]
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organism-sequence
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PR:000037741 |
presenilin-2 sequence variant R29H (human)
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hPSEN2/var:R29H
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"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]
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organism-sequence
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PR:000037742 |
presenilin-2 sequence variant G34S (human)
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hPSEN2/var:G34S
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"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]
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organism-sequence
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PR:000037743 |
presenilin-2 sequence variant R62H (human)
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hPSEN2/var:R62H
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"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]
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organism-sequence
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PR:000037744 |
presenilin-2 sequence variant R62C (human)
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hPSEN2/var:R62C
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"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]
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organism-sequence
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PR:000037745 |
presenilin-2 sequence variant P69A (human)
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hPSEN2/var:P69A
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"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]
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organism-sequence
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PR:000037746 |
presenilin-2 sequence variant R71W (human)
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hPSEN2/var:R71W
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"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]
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organism-sequence
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PR:000037747 |
presenilin-2 sequence variant A85V (human)
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hPSEN2/var:A85V
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"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]
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Yes |
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organism-sequence
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PR:000037748 |
presenilin-2 sequence variant T122P (human)
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hPSEN2/var:T122P
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"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]
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Yes |
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organism-sequence
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PR:000037749 |
presenilin-2 sequence variant T122R (human)
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hPSEN2/var:T122R
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"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]
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organism-sequence
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PR:000037750 |
presenilin-2 sequence variant E126K (human)
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hPSEN2/var:E126K
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"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]
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Yes |
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organism-sequence
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PR:000037751 |
presenilin-2 sequence variant S130L (human)
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hPSEN2/var:S130L
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"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]
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organism-sequence
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PR:000037752 |
presenilin-2 sequence variant V139M (human)
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hPSEN2/var:V139M
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"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]
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organism-sequence
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PR:000037753 |
presenilin-2 sequence variant N141I (human)
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hPSEN2/var:N141I
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"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]
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Yes |
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organism-sequence
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PR:000037754 |
presenilin-2 sequence variant N141Y (human)
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hPSEN2/var:N141Y
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"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]
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Yes |
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organism-sequence
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PR:000037755 |
presenilin-2 sequence variant L143H (human)
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hPSEN2/var:L143H
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"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]
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organism-sequence
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PR:000037756 |
presenilin-2 sequence variant V148I (human)
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hPSEN2/var:V148I
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"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]
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Yes |
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organism-sequence
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PR:000037757 |
presenilin-2 sequence variant R163H (human)
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hPSEN2/var:R163H
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"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]
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organism-sequence
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PR:000037758 |
presenilin-2 sequence variant M174V (human)
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hPSEN2/var:M174V
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"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]
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organism-sequence
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PR:000037759 |
presenilin-2 sequence variant S175C (human)
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hPSEN2/var:S175C
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"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]
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Yes |
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organism-sequence
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PR:000037760 |
presenilin-2 sequence variant V214L (human)
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hPSEN2/var:V214L
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"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]
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Yes |
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organism-sequence
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PR:000037761 |
presenilin-2 sequence variant Q228L (human)
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hPSEN2/var:Q228L
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"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]
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Yes |
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organism-sequence
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PR:000037762 |
presenilin-2 sequence variant Y231C (human)
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hPSEN2/var:Y231C
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"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]
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organism-sequence
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PR:000037763 |
presenilin-2 sequence variant M239V (human)
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hPSEN2/var:M239V
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"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]
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Yes |
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organism-sequence
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PR:000037764 |
presenilin-2 sequence variant M239I (human)
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hPSEN2/var:M239I
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"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]
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Yes |
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organism-sequence
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PR:000037765 |
presenilin-2 sequence variant A252T (human)
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hPSEN2/var:A252T
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"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]
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organism-sequence
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PR:000037766 |
presenilin-2 sequence variant P334R (human)
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hPSEN2/var:P334R
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"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]
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organism-sequence
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PR:000037767 |
presenilin-2 sequence variant V393M (human)
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hPSEN2/var:V393M
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"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]
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organism-sequence
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PR:000037768 |
presenilin-2 sequence variant T430M (human)
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hPSEN2/var:T430M
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"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]
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Yes |
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organism-sequence
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PR:000037769 |
presenilin-2 sequence variant D439A (human)
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hPSEN2/var:D439A
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"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]
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organism-sequence
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PR:000044560 |
presenilin-2 sequence variant G212V (human)
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hPSEN2/var:G212V
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"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]
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Yes |
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organism-sequence
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PR:000044561 |
presenilin-2 sequence variant L238P (human)
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hPSEN2/var:L238P
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"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]
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Yes |
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organism-sequence
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PR:000044562 |
presenilin-2 sequence variant P348L (human)
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hPSEN2/var:P348L
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"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]
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organism-sequence
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PR:000044563 |
presenilin-2 sequence variant T18M (human)
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hPSEN2/var:T18M
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"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]
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organism-sequence
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PR:000045476 |
presenilin-2 sequence variant K82R (human)
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hPSEN2/var:K82R
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"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]
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organism-sequence
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PR:000045477 |
presenilin-2 sequence variant V101M (human)
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hPSEN2/var:V101M
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"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]
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organism-sequence
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PR:000045478 |
presenilin-2 sequence variant P123L (human)
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hPSEN2/var:P123L
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"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]
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organism-sequence
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PR:000045479 |
presenilin-2 sequence variant K161R (human)
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hPSEN2/var:K161R
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"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]
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Yes |
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organism-sequence
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PR:000045480 |
presenilin-2 sequence variant H169N (human)
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hPSEN2/var:H169N
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"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]
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organism-sequence
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PR:000045481 |
presenilin-2 sequence variant I235F (human)
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hPSEN2/var:I235F
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"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]
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organism-sequence
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PR:000045482 |
presenilin-2 sequence variant A237V (human)
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hPSEN2/var:A237V
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"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]
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organism-sequence
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PR:000045483 |
presenilin-2 sequence variant L238F (human)
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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]
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organism-sequence
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PR:000045484 |
presenilin-2 sequence variant A258T (human)
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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]
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organism-sequence
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PR:000045485 |
presenilin-2 sequence variant T301M (human)
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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]
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organism-sequence
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PR:000045486 |
presenilin-2 sequence variant P334A (human)
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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]
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organism-sequence
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PR:000045487 |
presenilin-2 sequence variant A377V (human)
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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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organism-sequence
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PR:000036856 |
presenilin-2 isoform PS2beta (human)
|
hPSEN2/iso:PS2beta
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"A presenilin-2 isoform PS2beta that is encoded in the genome of human." [PMID:19376115, PRO:CNA]
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organism-sequence
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PR:P49810-1 |
presenilin-2 isoform 1 (human)
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hPSEN2/iso:1
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"A presenilin-2 isoform 1 that is encoded in the genome of human." [PMID:19376115, PRO:CNA]
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organism-sequence
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PR:P49810-2 |
presenilin-2 isoform h2 (human)
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hPSEN2/iso:h2
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"A presenilin-2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49810-2." [PRO:DNx, UniProtKB:P49810]
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organism-sequence
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PR:P49810-3 |
presenilin-2 isoform h3 (human)
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hPSEN2/iso:h3
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"A presenilin-2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49810-3." [PRO:DNx, UniProtKB:P49810]
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