[Term]
id: PR:000000323
name: serine/threonine-protein kinase receptor R3 sequence variant D254del (human)
def: "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Asp-254 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-253, 255-503." [PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hACVRL1/var:D254del" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P37023, 22-253, 255-503" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "serine/threonine-protein kinase receptor R3 sequence variant 15 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026793
is_a: PR:P37023 ! serine/threonine-protein kinase receptor R3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens