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Protein Ontology report - microtubule-associated protein tau sequence variant K280del (human) PR:000037531 - http://purl.obolibrary.org/obo/PR_000037531        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037531      PRO name microtubule-associated protein tau sequence variant K280del (human)    Synonyms PRO-Short-label: EXACT: hMAPT/var:K280del PRO-proteoform-std: EXACT: UniProtKB:P10636, 1-596, 598-758 NARROW: UniProtKB:P10636-1, 1-596, 598-758 | UniProtKB:P10636-8, 1-279, 281-441   Definition "A microtubule-associated protein tau sequence variant (human) that has a single-residue deletion at the position equivalent to Lys-280 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Lys-597 in PNS-Tau). Example: UniProtKB:P10636-8, 1-279, 281-441." [Alzforum:KD, PMID:17723255, PMID:9973279, PRO:DAN]    Comment Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_010347 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_010347 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000037531 hMAPT/var:K280del UniProtKB:P10636, 1-596, 598-758 | UniProtKB:P10636-1, 1-596, 598-758 | UniProtKB:P10636-8, 1-279, 281-441 "A microtubule-associated protein tau sequence variant (human) that has a single-residue deletion at the position equivalent to Lys-280 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Lys-597 in PNS-Tau). Example: UniProtKB:P10636-8, 1-279, 281-441." [Alzforum:KD, PMID:17723255, PMID:9973279, PRO:DAN] associated_with_disease_progression DO:9255 frontotemporal dementia PMID:9973279; UniProtKB_VAR:VAR_010347