[Term]
id: PR:000045438
name: microtubule-associated protein tau sequence variant S318L (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a Leu residue at the position equivalent to Ser-318 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, Ser-318, CHEBI:30006." [PRO:DAN, Alzforum:KD]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hMAPT/var:S318L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Ser-318, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10636-1, Ser-318, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:mapt-s318l
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens