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Protein Ontology report - microtubule-associated protein tau sequence variant P301L (human) PR:000037536 - http://purl.obolibrary.org/obo/PR_000037536        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037536      PRO name microtubule-associated protein tau sequence variant P301L (human)    Synonyms PRO-Short-label: EXACT: hMAPT/var:P301L PRO-proteoform-std: EXACT: UniProtKB:P10636, Pro-618, CHEBI:30006 NARROW: UniProtKB:P10636-1, Pro-618, CHEBI:30006 | 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: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_010348 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000037536 hMAPT/var:P301L UniProtKB:P10636, Pro-618, CHEBI:30006 | UniProtKB:P10636-1, Pro-618, CHEBI:30006 | UniProtKB:P10636-8, Pro-301, CHEBI:30006 "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] associated_with_disease_progression DO:9255 frontotemporal dementia PMID:10214944; PMID:9641683; PMID:9736786; PMID:9789048; PMID:9973279; UniProtKB_VAR:VAR_010348