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Protein Ontology Report - hMAPT/var:P301L

PR:000037536 - http://purl.obolibrary.org/obo/PR_000037536
Ontology Information
PRO ID PR:000037536 Show OBO stanza / PAF / GPI
PRO name microtubule-associated protein tau sequence variant P301L (human)
Synonyms
PRO-short-label: EXACT: hMAPT/var:P301L
PRO-proteoform-std: NARROW: UniProtKB:P10636-8, Pro-301, CHEBI:30006
Definition 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]
Comment Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_010348 is with respect to PNS-Tau numbering.
PRO Category organism-sequence
Parent PR:000028708 microtubule-associated protein tau sequence variant (human)
Taxon NCBITaxon:9606 Homo sapiens
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000037536
hMAPT/var:P301L
Pro-301, CHEBI:30006
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10214944, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9973279, UniProtKB_VAR:VAR_010348

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