[Term]
id: PR:000063618
name: ATP-binding cassette sub-family C member 8 sequence variant L213R, initiator methionine removed form (human)
def: "An ATP-binding cassette sub-family C member 8 (human) that has an Arg residue at the position equivalent to Leu-213 of the amino acid sequence represented by UniProtKB:Q09428-1 and that has had the initiator methionine removed. Example: UniProtKB:Q09428-1, 2-1581, Leu-213, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-5683253]
comment: Category=organism-modification.
synonym: "hABCC8/var:L213R/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q09428, 2-1581, Leu-213, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q09428-1, 2-1581, Leu-213, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "ABCC8 L213R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5683253]
xref: Reactome:R-HSA-5683253 "PR:000063618 located_in GO:0005886"
is_a: PR:Q09428 ! ATP-binding cassette sub-family C member 8 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens