[Term]
id: PR:000036993
name: microtubule-associated protein tau sequence variant Q336H (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Gln-336 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Gln-653 in PNS-Tau). Example: UniProtKB:P10636-8, Gln-336, CHEBI:29979." [PRO:DAN, Alzforum:KD]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hMAPT/var:Q336H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Gln-653, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, Gln-653, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-8, Gln-336, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:mapt-q336h
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens