[Term]
id: PR:000044548
name: microtubule-associated protein tau sequence variant Q230R (human)
def: "A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gln-230 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, Gln-230, CHEBI:29952." [PRO:DAN, Alzforum:KD]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hMAPT/var:Q230R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Gln-230, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10636-1, Gln-230, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:mapt-q230r
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens