[Term]
id: PR:000028714
name: microtubule-associated protein tau sequence variant V289A (human)
def: "A microtubule-associated protein tau sequence variant (human) that has an Ala residue at the position equivalent to Val-289 of the amino acid sequence represented by UniProtKB:P10636-1 (PNS-Tau; residue encoded within an exon missing from Tau-F). Example: UniProtKB:P10636-1, Val-289, CHEBI:46217." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hMAPT/var:V289A" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P10636, Val-289, CHEBI:46217" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10636-1, Val-289, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010341
xref: Alzforum_mut:mapt-v289a
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens