[Term]
id: PR:000037536
name: microtubule-associated protein tau sequence variant P301L (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Pro-301 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Pro-618 in PNS-Tau). Example: UniProtKB:P10636-8, Pro-301, CHEBI:30006." [Alzforum:KD, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9811325, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_010348 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:P301L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636-8, Pro-301, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010348
xref: Alzforum_mut:mapt-p301l
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens