[Term]
id: PR:000001743
name: myeloid differentiation primary response protein MyD88 sequence variant R196C (human)
def: "A myeloid differentiation primary response protein MyD88 (human) that has a Cys residue at the position equivalent to Arg-196 of the amino acid sequence represented by UniProtKB:Q99836-1. Example: UniProtKB:Q99836-1, Arg-196, CHEBI:29950." [PRO:CNA, PRO:DAN, PMID:18669862]
comment: Category=organism-sequence. Note: This residue is located within the TIR domain. The indicated mutation results in a loss of function.
synonym: "hMYD88/var:R196C" EXACT PRO-short-label [PRO:DNx]
synonym: "myeloid differentiation primary response protein MyD88 sequence variant 2 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:Q99836, Arg-196, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:Q99836-1, Arg-196, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_047954
xref: Reactome:R-HSA-5602329 "PR:000001743 located_in GO:0005829"
is_a: PR:Q99836 ! myeloid differentiation primary response protein MyD88 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens