[Term]
id: PR:000086241
name: histone-lysine N-methyltransferase 2D sequence variant W5217R (human)
def: "A histone-lysine N-methyltransferase 2D (human) that has an Arg residue at the position equivalent to Trp-5217 of the amino acid sequence represented by UniProtKB:O14686-1. Example: UniProtKB:O14686-1, Trp-5217, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-9946443]
comment: Category=organism-sequence.
synonym: "hKMT2D/var:W5217R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O14686, Trp-5217, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O14686-1, Trp-5217, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "KMT2D W5217R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9946443]
xref: Reactome:R-HSA-9946443 "PR:000086241 located_in GO:0005654"
is_a: PR:O14686 ! histone-lysine N-methyltransferase 2D (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens