[Term]
id: PR:000037530
name: microtubule-associated protein tau sequence variant N279K (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a Lys residue at the position equivalent to Asn-279 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-596 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-279, CHEBI:29967." [Alzforum:KD, PMID:1416801, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_010346 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:N279K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636-8, Asn-279, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:mapt-n279k
xref: UniProtKB_VAR:VAR_010346
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens