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Protein Ontology report - microtubule-associated protein tau sequence variant N296del (human)
PR:000028724 - http://purl.obolibrary.org/obo/PR_000028724
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000028724   
  PRO namemicrotubule-associated protein tau sequence variant N296del (human) 
  Synonyms
PRO-Short-label: EXACT:hMAPT/var:N296del
PRO-proteoform-std: EXACT:UniProtKB:P10636, 1-612, 614-758
NARROW:UniProtKB:P10636-1, 1-612, 614-758 | UniProtKB:P10636-8, 1-295, 297-441
  Definition"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] 
  CommentRequested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_019664 is with respect to PNS-Tau numbering. 
  PRO Categoryorganism-sequence 
  ParentPR:000028708 microtubule-associated protein tau sequence variant (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_019664
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000028724 hMAPT/var:N296del
UniProtKB:P10636, 1-612, 614-758 | UniProtKB:P10636-1, 1-612, 614-758 | UniProtKB:P10636-8, 1-295, 297-441
"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]
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