[Term]
id: PR:000045437
name: microtubule-associated protein tau sequence variant K317N (human)
def: "A microtubule-associated protein tau sequence variant (human) that has an Asn residue at the position equivalent to Lys-317 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; Lys-634 in PNS-Tau). Example: UniProtKB:P10636-8, Lys-317, CHEBI:50347." [PRO:DAN, Alzforum:KD, PMID:25900293]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hMAPT/var:K317N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Lys-634, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, Lys-634, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-8, Lys-317, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:mapt-k317n
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens