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Protein Ontology Report - hMAPT/var:N296del

PR:000028724 - http://purl.obolibrary.org/obo/PR_000028724
Ontology Information
PRO ID PR:000028724 Show OBO stanza / PAF / GPI
PRO name microtubule-associated protein tau sequence variant N296del (human)
Synonyms
PRO-short-label: EXACT: hMAPT/var:N296del
PRO-proteoform-std: 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]
Comment Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_019664 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:000028724
hMAPT/var:N296del
associated_with_disease_progression DOID:678 progressive supranuclear palsy PMID:11220749, PMID:11906000, PMID:14991828, PMID:14991829, UniProtKB_VAR:VAR_019664
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-n296del-dn296

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