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Protein Ontology report - microtubule-associated protein tau sequence variant (human)
PR:000028708 - http://purl.obolibrary.org/obo/PR_000028708
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:000028708   
  PRO namemicrotubule-associated protein tau sequence variant (human) 
  Synonyms
PRO-Short-label: EXACT:hMAPT/var+
  Definition"A microtubule-associated protein tau (human) that has at least one amino acid residue that differs from the corresponding residue found in another microtubule-associated protein tau (human) when such a difference arises as the result of genetic differences, i.e., different alleles of microtubule-associated protein tau (human). Operationally, this means the sequence representation of the microtubule-associated protein tau (human) has at least one amino acid residue that differs from the corresponding residue found in the amino acid sequence represented by UniProtKB:P10636-1." [PRO:DAN] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:P10636 microtubule-associated protein tau (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 77                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
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Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
organism-sequence


PR:000028708
microtubule-associated protein tau sequence variant (human)
hMAPT/var+
"A microtubule-associated protein tau (human) that has at least one amino acid residue that differs from the corresponding residue found in another microtubule-associated protein tau (human) when such a difference arises as the result of genetic differences, i.e., different alleles of microtubule-associated protein tau (human). Operationally, this means the sequence representation of the microtubule-associated protein tau (human) has at least one amino acid residue that differs from the corresponding residue found in the amino acid sequence represented by UniProtKB:P10636-1." [PRO:DAN]

organism-sequence


PR:000028709
microtubule-associated protein tau sequence variant R5H (human)
hMAPT/var:R5H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Arg-5 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Arg-5, CHEBI:29979." [Alzforum:KD, PMID:11921059, PRO:DAN]
Yes
organism-sequence


PR:000028710
microtubule-associated protein tau sequence variant R5L (human)
hMAPT/var:R5L
"A microtubule-associated protein tau sequence variant (human) that has a Lys residue at the position equivalent to Arg-5 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Arg-5, CHEBI:29967." [PRO:DAN]
Yes
organism-sequence


PR:000028711
microtubule-associated protein tau sequence variant T17M (human)
hMAPT/var:T17M
"A microtubule-associated protein tau sequence variant (human) that has a Met residue at the position equivalent to Thr-17 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Thr-17, CHEBI:16044." [PRO:DAN]

organism-sequence


PR:000028712
microtubule-associated protein tau sequence variant T30A (human)
hMAPT/var:T30A
"A microtubule-associated protein tau sequence variant (human) that has an Ala residue at the position equivalent to Thr-30 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Thr-30, CHEBI:46217." [PRO:DAN]

organism-sequence


PR:000028713
microtubule-associated protein tau sequence variant D285N (human)
hMAPT/var:D285N
"A microtubule-associated protein tau sequence variant (human) that has an Asn residue at the position equivalent to Asp-285 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Asp-285, CHEBI:50347." [PRO:DAN]

organism-sequence


PR:000028714
microtubule-associated protein tau sequence variant V289A (human)
hMAPT/var:V289A
"A microtubule-associated protein tau sequence variant (human) that has an Ala residue at the position equivalent to Val-289 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Val-289, CHEBI:46217." [PRO:DAN]

organism-sequence


PR:000028715
microtubule-associated protein tau sequence variant R370W (human)
hMAPT/var:R370W
"A microtubule-associated protein tau sequence variant (human) that has a Trp residue at the position equivalent to Arg-370 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Arg-370, CHEBI:29954." [PRO:DAN]

organism-sequence


PR:000028716
microtubule-associated protein tau sequence variant Y441H (human)
hMAPT/var:Y441H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Tyr-441 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Tyr-441, CHEBI:29979." [PRO:DAN]

organism-sequence


PR:000028717
microtubule-associated protein tau sequence variant S447P (human)
hMAPT/var:S447P
"A microtubule-associated protein tau sequence variant (human) that has a Pro residue at the position equivalent to Ser-447 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Ser-447, CHEBI:50342." [PRO:DAN]

organism-sequence


PR:000028724
microtubule-associated protein tau sequence variant N296del (human)
hMAPT/var:N296del
"A microtubule-associated protein tau sequence variant (human) that has a single-residue deletion at the position equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-613 in PNS-Tau). Example: UniProtKB:P10636-8, 1-295, 297-441." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence


PR:000028725
microtubule-associated protein tau sequence variant V300I (human)
hMAPT/var:V300I
"A microtubule-associated protein tau sequence variant (human) that has an Ile residue at the position equivalent to Val-300 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Val-617 in PNS-Tau). Example: UniProtKB:P10636-8, Val-300, CHEBI:30009." [Alzforum:KD, PMID:20020531, PRO:DAN]

organism-sequence


PR:000036992
microtubule-associated protein tau sequence variant G335V (human)
hMAPT/var:G335V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Gly-335 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Gly-652 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-335, CHEBI:30015." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000036993
microtubule-associated protein tau sequence variant Q336H (human)
hMAPT/var:Q336H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Gln-336 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Gln-653 in PNS-Tau). Example: UniProtKB:P10636-8, Gln-336, CHEBI:29979." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence


PR:000037521
microtubule-associated protein tau sequence variant G55R (human)
hMAPT/var:G55R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-55 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Gly-55, CHEBI:29952." [Alzforum:KD, PMID:24086739, PRO:DAN]

organism-sequence


PR:000037522
microtubule-associated protein tau sequence variant V75A (human)
hMAPT/var:V75A
"A microtubule-associated protein tau sequence variant (human) that has an Ala residue at the position equivalent to Val-75 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Val-75, CHEBI:46217." [Alzforum:KD, PMID:19768372, PRO:DAN]

organism-sequence


PR:000037523
microtubule-associated protein tau sequence variant G86S (human)
hMAPT/var:G86S
"A microtubule-associated protein tau sequence variant (human) that has a Ser residue at the position equivalent to Gly-86 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Gly-86, CHEBI:29999." [Alzforum:KD, PMID:15372253, PRO:DAN]

organism-sequence


PR:000037524
microtubule-associated protein tau sequence variant P202L (human)
hMAPT/var:P202L
"A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Pro-202 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Pro-202, CHEBI:30006." [Alzforum:KD, PMID:10643890, PRO:DAN]

organism-sequence


PR:000037525
microtubule-associated protein tau sequence variant K257T (human)
hMAPT/var:K257T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Lys-257 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Lys-574 in PNS-Tau). Example: UniProtKB:P10636-8, Lys-257, CHEBI:30013." [Alzforum:KD, PMID:11089577, PMID:11117542, PRO:DAN]
Yes
organism-sequence


PR:000037526
microtubule-associated protein tau sequence variant I260V (human)
hMAPT/var:I260V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Ile-260 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ile-577 in PNS-Tau). Example: UniProtKB:P10636-8, Ile-260, CHEBI:30015." [Alzforum:KD, PMID:14637086, PRO:DAN]

organism-sequence


PR:000037527
microtubule-associated protein tau sequence variant L266V (human)
hMAPT/var:L266V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Leu-266 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Leu-583 in PNS-Tau). Example: UniProtKB:P10636-8, Leu-266, CHEBI:30015." [Alzforum:KD, PMID:12509859, PMID:12883828, PRO:DAN]
Yes
organism-sequence


PR:000037528
microtubule-associated protein tau sequence variant G272V (human)
hMAPT/var:G272V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Gly-272 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-589 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-272, CHEBI:30015." [Alzforum:KD, PMID:9641683, PMID:9811325, PRO:DAN]
Yes
organism-sequence


PR:000037529
microtubule-associated protein tau sequence variant G273R (human)
hMAPT/var:G273R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-273 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-590 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-273, CHEBI:29952." [Alzforum:KD, PMID:16495329, PRO:DAN]

organism-sequence


PR:000037530
microtubule-associated protein tau sequence variant N279K (human)
hMAPT/var:N279K
"A microtubule-associated protein tau sequence variant (human) that has a Lys residue at the position equivalent to Asn-279 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-596 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-279, CHEBI:29967." [Alzforum:KD, PMID:1416801, PRO:DAN]
Yes
organism-sequence


PR:000037531
microtubule-associated protein tau sequence variant K280del (human)
hMAPT/var:K280del
"A microtubule-associated protein tau sequence variant (human) that has a single-residue deletion at the position equivalent to Lys-280 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Lys-597 in PNS-Tau). Example: UniProtKB:P10636-8, 1-279, 281-441." [Alzforum:KD, PMID:17723255, PMID:9973279, PRO:DAN]
Yes
organism-sequence


PR:000037532
microtubule-associated protein tau sequence variant L284R (human)
hMAPT/var:L284R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Leu-284 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Leu-601 in PNS-Tau). Example: UniProtKB:P10636-8, Leu-284, CHEBI:29952." [Alzforum:KD, PMID:20838030, PRO:DAN]
Yes
organism-sequence


PR:000037533
microtubule-associated protein tau sequence variant N296H (human)
hMAPT/var:N296H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-613 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-296, CHEBI:29979." [Alzforum:KD, PMID:11585254, PRO:DAN]
Yes
organism-sequence


PR:000037534
microtubule-associated protein tau sequence variant P301S (human)
hMAPT/var:P301S
"A microtubule-associated protein tau sequence variant (human) that has a Ser residue at the position equivalent to Pro-301 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Pro-618 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-301, CHEBI:29999." [Alzforum:KD, PMID:10374757, PMID:10553987, PMID:12796837, PRO:DAN]
Yes
organism-sequence


PR:000037535
microtubule-associated protein tau sequence variant P301T (human)
hMAPT/var:P301T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Pro-301 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Pro-618 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-301, CHEBI:30013." [Alzforum:KD, PMID:17662000, PRO:DAN]

organism-sequence


PR:000037536
microtubule-associated protein tau sequence variant P301L (human)
hMAPT/var:P301L
"A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Pro-301 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Pro-618 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-301, CHEBI:30006." [Alzforum:KD, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9811325, PRO:DAN]
Yes
organism-sequence


PR:000037537
microtubule-associated protein tau sequence variant G303V (human)
hMAPT/var:G303V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Gly-303 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka GLy-620 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-303, CHEBI:30015." [Alzforum:KD, PMID:16157753, PRO:DAN]
Yes
organism-sequence


PR:000037538
microtubule-associated protein tau sequence variant S305I (human)
hMAPT/var:S305I
"A microtubule-associated protein tau sequence variant (human) that has an Ile residue at the position equivalent to Ser-305 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ser-622 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-305, CHEBI:30009." [Alzforum:KD, PMID:18066559, PRO:DAN]

organism-sequence


PR:000037539
microtubule-associated protein tau sequence variant S305N (human)
hMAPT/var:S305N
"A microtubule-associated protein tau sequence variant (human) that has an Asn residue at the position equivalent to Ser-305 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ser-622 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-305, CHEBI:50347." [Alzforum:KD, PMID:10208578, PMID:12143928, PMID:12928922, PRO:DAN]
Yes
organism-sequence


PR:000037540
microtubule-associated protein tau sequence variant L315R (human)
hMAPT/var:L315R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Leu-315 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Arg-632 in PNS-Tau)). Example: UniProtKB:P10636-8, Leu-315, CHEBI:29952." [Alzforum:KD, PMID:14595646, PRO:DAN]

organism-sequence


PR:000037541
microtubule-associated protein tau sequence variant K317M (human)
hMAPT/var:K317M
"A microtubule-associated protein tau sequence variant (human) that has a Met residue at the position equivalent to Lys-317 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Lys-634 in PNS-Tau). Example: UniProtKB:P10636-8, Lys-317, CHEBI:16044." [Alzforum:KD, PMID:15883319, PRO:DAN]
Yes
organism-sequence


PR:000037542
microtubule-associated protein tau sequence variant S320Y (human)
hMAPT/var:S320Y
"A microtubule-associated protein tau sequence variant (human) that has a Tyr residue at the position equivalent to Ser-320 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ser-637 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-320, CHEBI:46858." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence


PR:000037543
microtubule-associated protein tau sequence variant S320F (human)
hMAPT/var:S320F
"A microtubule-associated protein tau sequence variant (human) that has a Phe residue at the position equivalent to Ser-320 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ser-637 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-320, CHEBI:29997." [Alzforum:KD, PMID:11891833, PRO:DAN]
Yes
organism-sequence


PR:000037544
microtubule-associated protein tau sequence variant G335S (human)
hMAPT/var:G335S
"A microtubule-associated protein tau sequence variant (human) that has a Ser residue at the position equivalent to Gly-335 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka GLy-652 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-335, CHEBI:29999." [Alzforum:KD, PMID:17186252, PRO:DAN]

organism-sequence


PR:000037545
microtubule-associated protein tau sequence variant Q336R (human)
hMAPT/var:Q336R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gln-336 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gln-653 in PNS-Tau). Example: UniProtKB:P10636-8, Gln-336, CHEBI:29952." [Alzforum:KD, PMID:15047590, PRO:DAN]

organism-sequence


PR:000037546
microtubule-associated protein tau sequence variant V337M (human)
hMAPT/var:V337M
"A microtubule-associated protein tau sequence variant (human) that has a Met residue at the position equivalent to Val-337 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Val-654 in PNS-Tau). Example: UniProtKB:P10636-8, Val-337, CHEBI:16044." [Alzforum:KD, PMID:1734292, PMID:9629852, PRO:DAN]
Yes
organism-sequence


PR:000037547
microtubule-associated protein tau sequence variant E342V (human)
hMAPT/var:E342V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Glu-342 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Glu-659 in PNS-Tau). Example: UniProtKB:P10636-8, Glu-342, CHEBI:30015." [Alzforum:KD, PMID:11117541, PRO:DAN]
Yes
organism-sequence


PR:000037548
microtubule-associated protein tau sequence variant S352L (human)
hMAPT/var:S352L
"A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Ser-352 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Ser-669 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-352, CHEBI:30006." [Alzforum:KD, PMID:14595660, PRO:DAN]
Yes
organism-sequence


PR:000037549
microtubule-associated protein tau sequence variant V363I (human)
hMAPT/var:V363I
"A microtubule-associated protein tau sequence variant (human) that has an Ile residue at the position equivalent to Val-363 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Val-680 in PNS-Tau). Example: UniProtKB:P10636-8, Val-363, CHEBI:30009." [Alzforum:KD, PMID:17712160, PMID:21343707, PRO:DAN]

organism-sequence


PR:000037550
microtubule-associated protein tau sequence variant K369I (human)
hMAPT/var:K369I
"A microtubule-associated protein tau sequence variant (human) that has an Ile residue at the position equivalent to Lys-369 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Lys-686 in PNS-Tau). Example: UniProtKB:P10636-8, Lys-369, CHEBI:30009." [Alzforum:KD, PMID:11601501, PRO:DAN]
Yes
organism-sequence


PR:000037551
microtubule-associated protein tau sequence variant G389R (human)
hMAPT/var:G389R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-389 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-706 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-389, CHEBI:29952." [Alzforum:KD, PMID:10604746, PMID:11117542, PMID:11193177, PMID:18307268, PRO:DAN]
Yes
organism-sequence


PR:000037552
microtubule-associated protein tau sequence variant R406W (human)
hMAPT/var:R406W
"A microtubule-associated protein tau sequence variant (human) that has a Trp residue at the position equivalent to Arg-406 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Arg-723 in PNS-Tau). Example: UniProtKB:P10636-8, Arg-406, CHEBI:29954." [Alzforum:KD, PMID:9382464, PRO:DAN]
Yes
organism-sequence


PR:000037553
microtubule-associated protein tau sequence variant N410H (human)
hMAPT/var:N410H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Asn-410 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-727 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-410, CHEBI:29979." [Alzforum:KD, PMID:24121548, PRO:DAN]
Yes
organism-sequence


PR:000037554
microtubule-associated protein tau sequence variant T427M (human)
hMAPT/var:T427M
"A microtubule-associated protein tau sequence variant (human) that has a Met residue at the position equivalent to Thr-427 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Thr-744 in PNS-Tau). Example: UniProtKB:P10636-8, Thr-427, CHEBI:16044." [Alzforum:KD, PMID:15940384, PRO:DAN]

organism-sequence


PR:000044548
microtubule-associated protein tau sequence variant Q230R (human)
hMAPT/var:Q230R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gln-230 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Gln-230, CHEBI:29952." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000044549
microtubule-associated protein tau sequence variant L410F (human)
hMAPT/var:L410F
"A microtubule-associated protein tau sequence variant (human) that has a Phe residue at the position equivalent to Leu-410 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Leu-410, CHEBI:29997." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000044550
microtubule-associated protein tau sequence variant P512H (human)
hMAPT/var:P512H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Pro-512 of the amino acid sequence represented by UniProtKB:P10636-9 (Tau-G; residue encoded within an exon missing from Tau-F and PNS-Tau). Example: UniProtKB:P10636-9, Pro-512, CHEBI:29979." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045403
microtubule-associated protein tau sequence variant R5C (human)
hMAPT/var:R5C
"A microtubule-associated protein tau sequence variant (human) that has a Cys residue at the position equivalent to Arg-5 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Arg-5, CHEBI:29950." [Alzforum:KD, PMID:25604855, PRO:DAN]

organism-sequence


PR:000045404
microtubule-associated protein tau sequence variant P4T (human)
hMAPT/var:P4T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Pro-4 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Pro-4, CHEBI:30013." [Alzforum:KD, PMID:25937274, PRO:DAN]

organism-sequence


PR:000045405
microtubule-associated protein tau sequence variant A41T (human)
hMAPT/var:A41T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ala-41 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Ala-41, CHEBI:30013." [Alzforum:KD, PMID:25604855, PRO:DAN]

organism-sequence


PR:000045406
microtubule-associated protein tau sequence variant A90V (human)
hMAPT/var:A90V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Ala-90 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; same residue in PNS-Tau). Example: UniProtKB:P10636-8, Ala-90, CHEBI:30015." [Alzforum:KD, PMID:25937274, PRO:DAN]

organism-sequence


PR:000045425
microtubule-associated protein tau sequence variant A152T (human)
hMAPT/var:A152T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ala-152 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ala-469 in PNS-Tau). Example: UniProtKB:P10636-8, Ala-152, CHEBI:30013." [Alzforum:KD, PMID:21176711, PMID:22556362, PRO:DAN]

organism-sequence


PR:000045426
microtubule-associated protein tau sequence variant A178T (human)
hMAPT/var:A178T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ala-495 in PNS-Tau). Example: UniProtKB:P10636-8, Ala-178, CHEBI:30013." [Alzforum:KD, PMID:10443890, PRO:DAN]

organism-sequence


PR:000045427
microtubule-associated protein tau sequence variant G200E (human)
hMAPT/var:G200E
"A microtubule-associated protein tau sequence variant (human) that has a Glu residue at the position equivalent to Gly-200 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Gly-200, CHEBI:29972." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045428
microtubule-associated protein tau sequence variant R211H (human)
hMAPT/var:R211H
"A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Arg-211 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Arg-528 in PNS-Tau). Example: UniProtKB:P10636-8, Arg-211, CHEBI:29979." [Alzforum:KD, PMID:25604855, PRO:DAN]

organism-sequence


PR:000045429
microtubule-associated protein tau sequence variant G213R (human)
hMAPT/var:G213R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-213 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Gly-213, CHEBI:29952." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045430
microtubule-associated protein tau sequence variant V224G (human)
hMAPT/var:V224G
"A microtubule-associated protein tau sequence variant (human) that has a Gly residue at the position equivalent to Val-224 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Val-224, CHEBI:29947." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045431
microtubule-associated protein tau sequence variant A239T (human)
hMAPT/var:A239T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ala-239 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ala-556 in PNS-Tau). Example: UniProtKB:P10636-8, Ala-239, CHEBI:30013." [Alzforum:KD, PMID:11912108, PRO:DAN]

organism-sequence


PR:000045432
microtubule-associated protein tau sequence variant S285R (human)
hMAPT/var:S285R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Ser-285 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ser-602 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-285, CHEBI:29952." [Alzforum:KD, PMID:22818528, PRO:DAN]
Yes
organism-sequence


PR:000045433
microtubule-associated protein tau sequence variant V287I (human)
hMAPT/var:V287I
"A microtubule-associated protein tau sequence variant (human) that has an Ile residue at the position equivalent to Val-287 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Val-604 in PNS-Tau). Example: UniProtKB:P10636-8, Val-287, CHEBI:30009." [Alzforum:KD, PMID:22906081, PRO:DAN]

organism-sequence


PR:000045434
microtubule-associated protein tau sequence variant C291R (human)
hMAPT/var:C291R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Cys-291 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Cys-608 in PNS-Tau). Example: UniProtKB:P10636-8, Cys-291, CHEBI:29952." [Alzforum:KD, PMID:26402116, PRO:DAN]

organism-sequence


PR:000045435
microtubule-associated protein tau sequence variant N296D (human)
hMAPT/var:N296D
"A microtubule-associated protein tau sequence variant (human) that has an Asp residue at the position equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Asn-613 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-296, CHEBI:29958." [Alzforum:KD, PMID:25108559, PRO:DAN]

organism-sequence


PR:000045436
microtubule-associated protein tau sequence variant A297V (human)
hMAPT/var:A297V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Ala-297 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Ala-297, CHEBI:30015." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045437
microtubule-associated protein tau sequence variant K317N (human)
hMAPT/var:K317N
"A microtubule-associated protein tau sequence variant (human) that has an Asn residue at the position equivalent to Lys-317 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Lys-634 in PNS-Tau). Example: UniProtKB:P10636-8, Lys-317, CHEBI:50347." [Alzforum:KD, PMID:25900293, PRO:DAN]

organism-sequence


PR:000045438
microtubule-associated protein tau sequence variant S318L (human)
hMAPT/var:S318L
"A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Ser-318 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Ser-318, CHEBI:30006." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045439
microtubule-associated protein tau sequence variant P332S (human)
hMAPT/var:P332S
"A microtubule-associated protein tau sequence variant (human) that has a Ser residue at the position equivalent to Pro-332 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Pro-649 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-332, CHEBI:29999." [Alzforum:KD, PMID:22699846, PRO:DAN]

organism-sequence


PR:000045440
microtubule-associated protein tau sequence variant S356T (human)
hMAPT/var:S356T
"A microtubule-associated protein tau sequence variant (human) that has a Thr residue at the position equivalent to Ser-356 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ser-673 in PNS-Tau). Example: UniProtKB:P10636-8, Ser-356, CHEBI:30013." [Alzforum:KD, PMID:20708332, PRO:DAN]

organism-sequence


PR:000045441
microtubule-associated protein tau sequence variant I360V (human)
hMAPT/var:I360V
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Ile-360 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Ile-677 in PNS-Tau). Example: UniProtKB:P10636-8, Ile-360, CHEBI:30015." [Alzforum:KD, PMID:25604855, PRO:DAN]

organism-sequence


PR:000045442
microtubule-associated protein tau sequence variant P364S (human)
hMAPT/var:P364S
"A microtubule-associated protein tau sequence variant (human) that has a Ser residue at the position equivalent to Pro-364 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Pro-681 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-364, CHEBI:29999." [Alzforum:KD, PMID:21943955, PRO:DAN]

organism-sequence


PR:000045443
microtubule-associated protein tau sequence variant G366R (human)
hMAPT/var:G366R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-366 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; GLy-683 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-366, CHEBI:29952." [Alzforum:KD, PMID:21943955, PRO:DAN]

organism-sequence


PR:000045444
microtubule-associated protein tau sequence variant S427F (human)
hMAPT/var:S427F
"A microtubule-associated protein tau sequence variant (human) that has a Phe residue at the position equivalent to Ser-427 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Ser-427, CHEBI:29997." [Alzforum:KD, PRO:DAN]

organism-sequence


PR:000045445
microtubule-associated protein tau sequence variant R448* (human)
hMAPT/var:R448*
"A microtubule-associated protein tau sequence variant (human) that has a premature stop at the position equivalent to Arg-448 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, 1-447." [Alzforum:KD, PMID:21943955, PRO:DAN]

organism-sequence


PR:000045446
microtubule-associated protein tau sequence variant P511R (human)
hMAPT/var:P511R
"A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Pro-511 of the amino acid sequence represented by UniProtKB:P10636-9 (Tau-G; residue encoded within an exon missing from Tau-F and PNS-Tau). Example: UniProtKB:P10636-9, Pro-511, CHEBI:29952." [Alzforum:KD, PRO:DAN]

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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000028709 hMAPT/var:R5H
Example: UniProtKB:P10636-8, Arg-5, CHEBI:29979		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:11921059; UniProtKB_VAR:VAR_019660
PR:000028710 hMAPT/var:R5L
Example: UniProtKB:P10636-8, Arg-5, CHEBI:29967		 associated_with_disease_progressionDO:678 progressive supranuclear palsy PMID:12325083; UniProtKB_VAR:VAR_019661
DO:680 tauopathy Alzforum:mapt-r5l
PR:000028724 hMAPT/var:N296del
Example: UniProtKB:P10636-8, 1-295, 297-441		 associated_with_disease_progressionDO:678 progressive supranuclear palsy PMID:11220749; PMID:11906000; PMID:14991828; PMID:14991829; UniProtKB_VAR:VAR_019664
DO:680 tauopathy Alzforum:mapt-n296del-dn296
PR:000036993 hMAPT/var:Q336H
Example: UniProtKB:P10636-8, Gln-336, CHEBI:29979		 associated_with_disease_progressionDO:11870 Pick's disease Alzforum:mapt-q336h
PR:000037525 hMAPT/var:K257T
Example: UniProtKB:P10636-8, Lys-257, CHEBI:30013		 associated_with_disease_progressionDO:11870 Pick's disease PMID:11089577; PMID:11117542; UniProtKB_VAR:VAR_010344
DO:680 tauopathy Alzforum:mapt-k257t
PR:000037527 hMAPT/var:L266V
Example: UniProtKB:P10636-8, Leu-266, CHEBI:30015		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:12509859; UniProtKB_VAR:VAR_019662
PR:000037528 hMAPT/var:G272V
Example: UniProtKB:P10636-8, Gly-272, CHEBI:30015		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:9641683; PMID:9973279; UniProtKB_VAR:VAR_010345
PR:000037530 hMAPT/var:N279K
Example: UniProtKB:P10636-8, Asn-279, CHEBI:29967		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:10412802; PMID:10489057; PMID:10802785; PMID:12473774; PMID:9789048; UniProtKB_VAR:VAR_010346
PR:000037531 hMAPT/var:K280del
Example: UniProtKB:P10636-8, 1-279, 281-441		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:9973279; UniProtKB_VAR:VAR_010347
PR:000037532 hMAPT/var:L284R
Example: UniProtKB:P10636-8, Leu-284, CHEBI:29952		 associated_with_disease_progressionDO:680 tauopathy Alzforum:mapt-l284r
PR:000037533 hMAPT/var:N296H
Example: UniProtKB:P10636-8, Asn-296, CHEBI:29979		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:11585254; PMID:11906000; UniProtKB_VAR:VAR_019663
PR:000037534 hMAPT/var:P301S
Example: UniProtKB:P10636-8, Pro-301, CHEBI:29999		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:10374757; PMID:10553987; PMID:11071507; PMID:16240366; UniProtKB_VAR:VAR_010349
PR:000037536 hMAPT/var:P301L
Example: UniProtKB:P10636-8, Pro-301, CHEBI:30006		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:10214944; PMID:9641683; PMID:9736786; PMID:9789048; PMID:9973279; UniProtKB_VAR:VAR_010348
PR:000037537 hMAPT/var:G303V
Example: UniProtKB:P10636-8, Gly-303, CHEBI:30015		 associated_with_disease_progressionDO:678 progressive supranuclear palsy PMID:16157753; UniProtKB_VAR:VAR_037439
DO:680 tauopathy Alzforum:mapt-g303v
PR:000037539 hMAPT/var:S305N
Example: UniProtKB:P10636-8, Ser-305, CHEBI:50347		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:10208578; UniProtKB_VAR:VAR_010350
PR:000037541 hMAPT/var:K317M
Example: UniProtKB:P10636-8, Lys-317, CHEBI:16044		 associated_with_disease_progressionDO:680 tauopathy Alzforum:mapt-k317m
DO:9255 frontotemporal dementia PMID:15883319; UniProtKB_VAR:VAR_037440
PR:000037542 hMAPT/var:S320Y
Example: UniProtKB:P10636-8, Ser-320, CHEBI:46858		 associated_with_disease_progressionDO:680 tauopathy Alzforum:mapt-s320y
PR:000037543 hMAPT/var:S320F
Example: UniProtKB:P10636-8, Ser-320, CHEBI:29997		 associated_with_disease_progressionDO:11870 Pick's disease PMID:11891833; UniProtKB_VAR:VAR_019665
PR:000037546 hMAPT/var:V337M
Example: UniProtKB:P10636-8, Val-337, CHEBI:16044		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:10214944; PMID:9629852; UniProtKB_VAR:VAR_010351
PR:000037547 hMAPT/var:E342V
Example: UniProtKB:P10636-8, Glu-342, CHEBI:30015		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:11117541; UniProtKB_VAR:VAR_019666
PR:000037548 hMAPT/var:S352L
Example: UniProtKB:P10636-8, Ser-352, CHEBI:30006		 associated_with_disease_progressionDO:680 tauopathy Alzforum:mapt-s352l
PR:000037550 hMAPT/var:K369I
Example: UniProtKB:P10636-8, Lys-369, CHEBI:30009		 associated_with_disease_progressionDO:11870 Pick's disease PMID:11601501; UniProtKB_VAR:VAR_019668
PR:000037551 hMAPT/var:G389R
Example: UniProtKB:P10636-8, Gly-389, CHEBI:29952		 associated_with_disease_progressionDO:11870 Pick's disease PMID:10604746; PMID:11117542; UniProtKB_VAR:VAR_010352
DO:680 tauopathy Alzforum:mapt-g389r-ga
PR:000037552 hMAPT/var:R406W
Example: UniProtKB:P10636-8, Arg-406, CHEBI:29954		 associated_with_disease_progressionDO:9255 frontotemporal dementia PMID:10214944; PMID:11278002; PMID:11889249; PMID:14517953; PMID:9641683; PMID:9973279; UniProtKB_VAR:VAR_010353
PR:000037553 hMAPT/var:N410H
Example: UniProtKB:P10636-8, Asn-410, CHEBI:29979		 associated_with_disease_progressionDO:680 tauopathy Alzforum:mapt-n410h
PR:000045432 hMAPT/var:S285R
Example: UniProtKB:P10636-8, Ser-285, CHEBI:29952		 associated_with_disease_progressionDO:678 progressive supranuclear palsy Alzforum:mapt-s285r