[Term]
id: PR:000086229
name: histone-lysine N-methyltransferase 2D sequence variant R5340L (human)
def: "A histone-lysine N-methyltransferase 2D (human) that has a Leu residue at the position equivalent to Arg-5340 of the amino acid sequence represented by UniProtKB:O14686-1. Example: UniProtKB:O14686-1, Arg-5340, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-9946454]
comment: Category=organism-sequence.
synonym: "hKMT2D/var:R5340L" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O14686, Arg-5340, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O14686-1, Arg-5340, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "KMT2D R5340L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9946454]
xref: Reactome:R-HSA-9946454 "PR:000086229 located_in GO:0005654"
is_a: PR:O14686 ! histone-lysine N-methyltransferase 2D (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens