Reactome | F8 S2192I [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9668160] Shamovsky, Veronica, 2019-11-19
dbId	9668157
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 S2192I [extracellular region]
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9668158] L-serine 2192 replaced with L-isoleucine
inDisease	true
literatureReference	[LiteratureReference:9665833] Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure
name	F8 S2192I FVIII S2192I
referenceEntity	[ReferenceGeneProduct:54602] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9668157
startCoordinate	1668

(hasCandidate)

Cite Us!