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Protein Ontology report - microtubule-associated protein tau sequence variant K317M (human)
PR:000037541 - http://purl.obolibrary.org/obo/PR_000037541
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000037541   
  PRO namemicrotubule-associated protein tau sequence variant K317M (human) 
  Synonyms
PRO-Short-label: EXACT:hMAPT/var:K317M
PRO-proteoform-std: EXACT:UniProtKB:P10636, Lys-634, CHEBI:16044
NARROW:UniProtKB:P10636-1, Lys-634, CHEBI:16044 | UniProtKB:P10636-8, Lys-317, CHEBI:16044
  Definition"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] 
  CommentRequested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_037440 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_037440
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000037541 hMAPT/var:K317M
UniProtKB:P10636, Lys-634, CHEBI:16044 | UniProtKB:P10636-1, Lys-634, CHEBI:16044 | UniProtKB:P10636-8, Lys-317, CHEBI:16044
"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]
associated_with_disease_progressionDO:680 tauopathy Alzforum:mapt-k317m
DO:9255 frontotemporal dementia PMID:15883319; UniProtKB_VAR:VAR_037440