[Term]
id: PR:000064000
name: mast/stem cell growth factor receptor Kit sequence variant S476I, signal peptide removed form (human)
def: "A mast/stem cell growth factor receptor Kit (human) that has an Ile residue at the position equivalent to Ser-476 of the amino acid sequence represented by UniProtKB:P10721-1 and that has had the signal peptide removed. Example: UniProtKB:P10721-1, 26-976, Ser-476, CHEBI:30009." [PRO:DNx, Reactome:R-HSA-9680090]
comment: Category=organism-modification.
synonym: "hKIT/var:S476I/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "KIT S476I" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9680090]
synonym: "UniProtKB:P10721, 26-976, Ser-476, CHEBI:30009" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10721-1, 26-976, Ser-476, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9680090 "PR:000064000 located_in GO:0005886"
is_a: PR:P10721 ! mast/stem cell growth factor receptor Kit (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens