[Term]
id: PR:000001742
name: myeloid differentiation primary response protein MyD88 sequence variant L93P (human)
def: "A myeloid differentiation primary response protein MyD88 (human) that has a Pro residue at the position equivalent to Leu-93 of the amino acid sequence represented by UniProtKB:Q99836-1. Example: UniProtKB:Q99836-1, Leu-93, CHEBI:50342." [PRO:CNA, PRO:DAN, PMID:18669862]
comment: Category=organism-sequence. Note: This residue is located within the Death domain. Results in a loss of function.
synonym: "hMYD88/var:L93P" EXACT PRO-short-label [PRO:DNx]
synonym: "myeloid differentiation primary response protein MyD88 sequence variant 1 (human)" EXACT [PRO:DNx]
synonym: "UniProtKB:Q99836, Leu-93, CHEBI:50342" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:Q99836-1, Leu-93, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_047953
xref: Reactome:R-HSA-5602612 "PR:000001742 located_in GO:0005829"
is_a: PR:Q99836 ! myeloid differentiation primary response protein MyD88 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens