[Term]
id: PR:000037528
name: microtubule-associated protein tau sequence variant G272V (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Gly-272 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-589 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-272, CHEBI:30015." [PRO:DAN, Alzforum:KD, PMID:9641683, PMID:9811325]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_010345 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:G272V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Gly-589, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, Gly-589, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-8, Gly-272, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010345
xref: Alzforum_mut:mapt-g272v
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens