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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
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
organism-sequence


PR:000028708 microtubule-associated protein tau sequence variant (human)
hMAPT/var+

organism-sequence


PR:000028709 microtubule-associated protein tau sequence variant R5H (human)
hMAPT/var:R5H
Yes
organism-sequence


PR:000028710 microtubule-associated protein tau sequence variant R5L (human)
hMAPT/var:R5L
Yes
organism-sequence


PR:000028711 microtubule-associated protein tau sequence variant T17M (human)
hMAPT/var:T17M

organism-sequence


PR:000028712 microtubule-associated protein tau sequence variant T30A (human)
hMAPT/var:T30A

organism-sequence


PR:000028713 microtubule-associated protein tau sequence variant D285N (human)
hMAPT/var:D285N

organism-sequence


PR:000028714 microtubule-associated protein tau sequence variant V289A (human)
hMAPT/var:V289A

organism-sequence


PR:000028715 microtubule-associated protein tau sequence variant R370W (human)
hMAPT/var:R370W

organism-sequence


PR:000028716 microtubule-associated protein tau sequence variant Y441H (human)
hMAPT/var:Y441H

organism-sequence


PR:000028717 microtubule-associated protein tau sequence variant S447P (human)
hMAPT/var:S447P

organism-sequence


PR:000028724 microtubule-associated protein tau sequence variant N296del (human)
hMAPT/var:N296del
Yes
organism-sequence


PR:000028725 microtubule-associated protein tau sequence variant V300I (human)
hMAPT/var:V300I

organism-sequence


PR:000036992 microtubule-associated protein tau sequence variant G335V (human)
hMAPT/var:G335V

organism-sequence


PR:000036993 microtubule-associated protein tau sequence variant Q336H (human)
hMAPT/var:Q336H
Yes
organism-sequence


PR:000037521 microtubule-associated protein tau sequence variant G55R (human)
hMAPT/var:G55R

organism-sequence


PR:000037522 microtubule-associated protein tau sequence variant V75A (human)
hMAPT/var:V75A

organism-sequence


PR:000037523 microtubule-associated protein tau sequence variant G86S (human)
hMAPT/var:G86S

organism-sequence


PR:000037524 microtubule-associated protein tau sequence variant P202L (human)
hMAPT/var:P202L

organism-sequence


PR:000037525 microtubule-associated protein tau sequence variant K257T (human)
hMAPT/var:K257T
Yes
organism-sequence


PR:000037526 microtubule-associated protein tau sequence variant I260V (human)
hMAPT/var:I260V

organism-sequence


PR:000037527 microtubule-associated protein tau sequence variant L266V (human)
hMAPT/var:L266V
Yes
organism-sequence


PR:000037528 microtubule-associated protein tau sequence variant G272V (human)
hMAPT/var:G272V
Yes
organism-sequence


PR:000037529 microtubule-associated protein tau sequence variant G273R (human)
hMAPT/var:G273R

organism-sequence


PR:000037530 microtubule-associated protein tau sequence variant N279K (human)
hMAPT/var:N279K
Yes
organism-sequence


PR:000037531 microtubule-associated protein tau sequence variant K280del (human)
hMAPT/var:K280del
Yes
organism-sequence


PR:000037532 microtubule-associated protein tau sequence variant L284R (human)
hMAPT/var:L284R
Yes
organism-sequence


PR:000037533 microtubule-associated protein tau sequence variant N296H (human)
hMAPT/var:N296H
Yes
organism-sequence


PR:000037534 microtubule-associated protein tau sequence variant P301S (human)
hMAPT/var:P301S
Yes
organism-sequence


PR:000037535 microtubule-associated protein tau sequence variant P301T (human)
hMAPT/var:P301T

organism-sequence


PR:000037536 microtubule-associated protein tau sequence variant P301L (human)
hMAPT/var:P301L
Yes
organism-sequence


PR:000037537 microtubule-associated protein tau sequence variant G303V (human)
hMAPT/var:G303V
Yes
organism-sequence


PR:000037538 microtubule-associated protein tau sequence variant S305I (human)
hMAPT/var:S305I

organism-sequence


PR:000037539 microtubule-associated protein tau sequence variant S305N (human)
hMAPT/var:S305N
Yes
organism-sequence


PR:000037540 microtubule-associated protein tau sequence variant L315R (human)
hMAPT/var:L315R

organism-sequence


PR:000037541 microtubule-associated protein tau sequence variant K317M (human)
hMAPT/var:K317M
Yes
organism-sequence


PR:000037542 microtubule-associated protein tau sequence variant S320Y (human)
hMAPT/var:S320Y
Yes
organism-sequence


PR:000037543 microtubule-associated protein tau sequence variant S320F (human)
hMAPT/var:S320F
Yes
organism-sequence


PR:000037544 microtubule-associated protein tau sequence variant G335S (human)
hMAPT/var:G335S

organism-sequence


PR:000037545 microtubule-associated protein tau sequence variant Q336R (human)
hMAPT/var:Q336R

organism-sequence


PR:000037546 microtubule-associated protein tau sequence variant V337M (human)
hMAPT/var:V337M
Yes
organism-sequence


PR:000037547 microtubule-associated protein tau sequence variant E342V (human)
hMAPT/var:E342V
Yes
organism-sequence


PR:000037548 microtubule-associated protein tau sequence variant S352L (human)
hMAPT/var:S352L
Yes
organism-sequence


PR:000037549 microtubule-associated protein tau sequence variant V363I (human)
hMAPT/var:V363I

organism-sequence


PR:000037550 microtubule-associated protein tau sequence variant K369I (human)
hMAPT/var:K369I
Yes
organism-sequence


PR:000037551 microtubule-associated protein tau sequence variant G389R (human)
hMAPT/var:G389R
Yes
organism-sequence


PR:000037552 microtubule-associated protein tau sequence variant R406W (human)
hMAPT/var:R406W
Yes
organism-sequence


PR:000037553 microtubule-associated protein tau sequence variant N410H (human)
hMAPT/var:N410H
Yes
organism-sequence


PR:000037554 microtubule-associated protein tau sequence variant T427M (human)
hMAPT/var:T427M

organism-sequence


PR:000044548 microtubule-associated protein tau sequence variant Q230R (human)
hMAPT/var:Q230R

organism-sequence


PR:000044549 microtubule-associated protein tau sequence variant L410F (human)
hMAPT/var:L410F

organism-sequence


PR:000044550 microtubule-associated protein tau sequence variant P512H (human)
hMAPT/var:P512H

organism-sequence


PR:000045403 microtubule-associated protein tau sequence variant R5C (human)
hMAPT/var:R5C

organism-sequence


PR:000045404 microtubule-associated protein tau sequence variant P4T (human)
hMAPT/var:P4T

organism-sequence


PR:000045405 microtubule-associated protein tau sequence variant A41T (human)
hMAPT/var:A41T

organism-sequence


PR:000045406 microtubule-associated protein tau sequence variant A90V (human)
hMAPT/var:A90V

organism-sequence


PR:000045425 microtubule-associated protein tau sequence variant A152T (human)
hMAPT/var:A152T

organism-sequence


PR:000045426 microtubule-associated protein tau sequence variant A178T (human)
hMAPT/var:A178T

organism-sequence


PR:000045427 microtubule-associated protein tau sequence variant G200E (human)
hMAPT/var:G200E

organism-sequence


PR:000045428 microtubule-associated protein tau sequence variant R211H (human)
hMAPT/var:R211H

organism-sequence


PR:000045429 microtubule-associated protein tau sequence variant G213R (human)
hMAPT/var:G213R

organism-sequence


PR:000045430 microtubule-associated protein tau sequence variant V224G (human)
hMAPT/var:V224G

organism-sequence


PR:000045431 microtubule-associated protein tau sequence variant A239T (human)
hMAPT/var:A239T

organism-sequence


PR:000045432 microtubule-associated protein tau sequence variant S285R (human)
hMAPT/var:S285R
Yes
organism-sequence


PR:000045433 microtubule-associated protein tau sequence variant V287I (human)
hMAPT/var:V287I

organism-sequence


PR:000045434 microtubule-associated protein tau sequence variant C291R (human)
hMAPT/var:C291R

organism-sequence


PR:000045435 microtubule-associated protein tau sequence variant N296D (human)
hMAPT/var:N296D

organism-sequence


PR:000045436 microtubule-associated protein tau sequence variant A297V (human)
hMAPT/var:A297V

organism-sequence


PR:000045437 microtubule-associated protein tau sequence variant K317N (human)
hMAPT/var:K317N

organism-sequence


PR:000045438 microtubule-associated protein tau sequence variant S318L (human)
hMAPT/var:S318L

organism-sequence


PR:000045439 microtubule-associated protein tau sequence variant P332S (human)
hMAPT/var:P332S

organism-sequence


PR:000045440 microtubule-associated protein tau sequence variant S356T (human)
hMAPT/var:S356T

organism-sequence


PR:000045441 microtubule-associated protein tau sequence variant I360V (human)
hMAPT/var:I360V

organism-sequence


PR:000045442 microtubule-associated protein tau sequence variant P364S (human)
hMAPT/var:P364S

organism-sequence


PR:000045443 microtubule-associated protein tau sequence variant G366R (human)
hMAPT/var:G366R

organism-sequence


PR:000045444 microtubule-associated protein tau sequence variant S427F (human)
hMAPT/var:S427F

organism-sequence


PR:000045445 microtubule-associated protein tau sequence variant R448* (human)
hMAPT/var:R448*

organism-sequence


PR:000045446 microtubule-associated protein tau sequence variant P511R (human)
hMAPT/var:P511R

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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