Reactome | RB1 R661W [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9659799] Orlic-Milacic, Marija, 2019-09-05
crossReference	[DatabaseIdentifier:12021352] Mondo:0008380 [DatabaseIdentifier:9659802] COSMIC:COSV57295487
dbId	9659801
disease	[Disease:1500689] cancer [Disease:2206359] retinoblastoma [Disease:9659088] osteosarcoma [Disease:1500576] breast cancer [Disease:1996318] astrocytoma [Disease:1248674] large intestine cancer [Disease:9648487] lung small cell carcinoma [Disease:2327998] esophageal carcinoma [Disease:2328198] pancreatic cancer [Disease:9632211] epidermal appendage tumor [Disease:1493885] bladder carcinoma
displayName	RB1 R661W [nucleoplasm]
endCoordinate	928
hasModifiedResidue	[ReplacedResidue:9659797] L-arginine 661 replaced with L-tryptophan
inDisease	true
literatureReference	[LiteratureReference:9659789] Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function
maxDepth	1
memberOf	[CandidateSet:R-HSA-9659785] RB1 mutants (E2F binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9659810] Orlic-Milacic, Marija, 2019-09-05
name	RB1 R661W RB1 Arg661Trp
referenceEntity	[ReferenceGeneProduct:uniprot:P06400] UniProt:P06400 RB1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9659801
startCoordinate	2

(hasMember)

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