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Details on Person SI(1008-1826) C1229Y [plasma membrane]

Class:Id	EntityWithAccessionedSequence:5659913
_displayName	SI(1008-1826) C1229Y [plasma membrane]
_timestamp	2025-09-29 17:53:20
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5659876] D'Eustachio, Peter, 2014-12-23
disease	[Disease:5659880] intestinal disaccharidase deficiency
endCoordinate	1826
hasModifiedResidue	[ReplacedResidue:5659884] L-cysteine 1229 replaced with L-tyrosine
literatureReference	[LiteratureReference:5659889] Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption
modified	[InstanceEdit:9967508] D'Eustachio, Peter, 2025-09-29
name	SI(1008-1826) C1229Y sucrase fragment of sucrase-isomaltase C1229Y
referenceEntity	[ReferenceGeneProduct:65288] UniProt:P14410 SI [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5680538] R-HSA-5659913.2
startCoordinate	1008
(hasComponent)	[Complex:5659912] sucrase-isomaltase C1229Y [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9972130] Update Tracker - [EntityWithAccessionedSequence:5659913] SI(1008-1826) C1229Y [plasma membrane] - v95:[modifyName, modifyStartCoordinate]
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No pathways have been reviewed or authored by SI(1008-1826) C1229Y [plasma membrane] (5659913)