[Term]
id: PR:000028724
name: microtubule-associated protein tau sequence variant N296del (human)
def: "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." [PRO:DAN, Alzforum:KD]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_019664 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:N296del" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P10636, 1-612, 614-758" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, 1-612, 614-758" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-8, 1-295, 297-441" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_019664
xref: Alzforum_mut:mapt-n296del-dn296
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens