[Term]
id: PR:000063514
name: methyl-CpG-binding protein 2 isoform 2 sequence variant R318H (human)
def: "A methyl-CpG-binding protein 2 isoform 2 (human) that has a His residue at the position equivalent to Arg-318 of the amino acid sequence represented by UniProtKB:P51608-2. UniProtKB:P51608-2, Arg-318, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-9005568]
comment: Category=organism-sequence.
synonym: "hMECP2/iso:2/var:R318H" EXACT PRO-short-label [PRO:DNx]
synonym: "MeCP2_e1 R318H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9005568]
synonym: "UniProtKB:P51608-2, Arg-318, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9005568 "PR:000063514 located_in GO:0005654"
is_a: PR:P51608-2 ! methyl-CpG-binding protein 2 isoform 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens