[Term]
id: PR:000061094
name: methyl-CpG-binding protein 2 isoform 1 sequence variant R306H (human)
def: "A methyl-CpG-binding protein 2 isoform 1 (human) that has a His residue at the position equivalent to Arg-306 of the amino acid sequence represented by UniProtKB:P51608-1. UniProtKB:P51608-1, Arg-306, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-9005567]
comment: Category=organism-sequence.
synonym: "hMECP2/iso:1/var:R306H" EXACT PRO-short-label [PRO:DNx]
synonym: "MECP2_e2 R306H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9005567]
synonym: "UniProtKB:P51608-1, Arg-306, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9005567 "PR:000061094 located_in GO:0005654"
is_a: PR:P51608-1 ! methyl-CpG-binding protein 2 isoform 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens