[Term]
id: PR:000061611
name: phenylalanine-4-hydroxylase sequence variant S40L, initiator methionine removed form (human)
def: "A phenylalanine-4-hydroxylase (human) that has a Leu residue at the position equivalent to Ser-40 of the amino acid sequence represented by UniProtKB:P00439 and that has had the initiator methionine removed. UniProtKB:P00439, 2-452, Ser-40, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-5649486]
comment: Category=organism-modification.
synonym: "hPAH/var:S40L/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "PAH S40L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5649486]
synonym: "UniProtKB:P00439, 2-452, Ser-40, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5649486 "PR:000061611 located_in GO:0005829"
is_a: PR:P00439 ! phenylalanine-4-hydroxylase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens