Reactome | F9(29-461) L163F [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9672454] Shamovsky, Veronica, 2019-12-26
dbId	9672451
disease	[Disease:9670882] hemophilia B
displayName	F9(29-461) L163F [endoplasmic reticulum lumen]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9672449] L-leucine 163 replaced with L-phenylalanine
inDisease	true
literatureReference	[LiteratureReference:9672428] Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
memberOf	[CandidateSet:R-HSA-9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] - Homo sapiens
name	F9(29-461) L163F factor IX propeptide L163F
referenceEntity	[ReferenceGeneProduct:54610] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9672451
startCoordinate	29

(hasMember)

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