[Term]
id: PR:000028716
name: microtubule-associated protein tau sequence variant Y441H (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Tyr-441 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, Tyr-441, CHEBI:29979." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum. Note: Both alleles Y441 and H441 occur in healthy individuals. Hence Alzforum describes both in a single entry.
synonym: "hMAPT/var:Y441H" EXACT PRO-short-label [PRO:DNx]
synonym: "hMAPT/var:H441Y" EXACT [Alzforum_mut:mapt-h441y]
synonym: "UniProtKB:P10636, Tyr-441, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10636-1, Tyr-441, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010342
xref: Alzforum_mut:mapt-h441y
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens