[Term]
id: PR:000044550
name: microtubule-associated protein tau sequence variant P512H (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Pro-512 of the amino acid sequence represented by UniProtKB:P10636-9 (Tau-G; residue encoded within an exon missing from Tau-F and PNS-Tau). Example: UniProtKB:P10636-9, Pro-512, CHEBI:29979." [PRO:DAN, Alzforum:KD]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hMAPT/var:P512H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636-9, Pro-512, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:mapt-p512h
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens