Reactome | 3OHD110-F9(29-461) N46S [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
dbId	9673232
displayName	3OHD110-F9(29-461) N46S [endoplasmic reticulum lumen]
endCoordinate	461
hasModifiedResidue	[ModifiedResidue:140818] (2S,3R)-3-hydroxyaspartic acid at 110 [ReplacedResidue:9673187] L-arginine 46 replaced with L-serine
inDisease	false
literatureReference	[LiteratureReference:140890] The occurrence of beta-hydroxyaspartic acid in the vitamin K-dependent blood coagulation zymogens [LiteratureReference:9673214] Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
maxDepth	1
memberOf	[DefinedSet:R-HSA-9673245] 3OHD110-F9(29-461) variant [endoplasmic reticulum lumen] - Homo sapiens
name	3OHD110-F9(29-461) N46S pro-factor IX N46S, uncarboxylated
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9673232
startCoordinate	29

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