[Term]
id: PR:000086232
name: histone-lysine N-methyltransferase 2D sequence variant R5471W (human)
def: "A histone-lysine N-methyltransferase 2D (human) that has a Trp residue at the position equivalent to Arg-5471 of the amino acid sequence represented by UniProtKB:O14686-1. Example: UniProtKB:O14686-1, Arg-5471, CHEBI:29954." [PRO:DNx, Reactome:R-HSA-9946509]
comment: Category=organism-sequence.
synonym: "hKMT2D/var:R5471W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O14686, Arg-5471, CHEBI:29954" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O14686-1, Arg-5471, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "KMT2D R5471W" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9946509]
xref: Reactome:R-HSA-9946509 "PR:000086232 located_in GO:0005654"
is_a: PR:O14686 ! histone-lysine N-methyltransferase 2D (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens