[Term]
id: PR:000037551
name: microtubule-associated protein tau sequence variant G389R (human)
def: "A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-389 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-706 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-389, CHEBI:29952." [PRO:DAN, Alzforum:KD, PMID:10604746, PMID:11117542, PMID:11193177, PMID:18307268]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_010352 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:G389R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Gly-706, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, Gly-706, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-8, Gly-389, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010352
xref: Alzforum_mut:mapt-g389r-ga
xref: Alzforum_mut:mapt-g389r-gc
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens