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Details on Person CYP21A2 E380D [endoplasmic reticulum membrane]

Class:Id	EntityWithAccessionedSequence:5601934
_displayName	CYP21A2 E380D [endoplasmic reticulum membrane]
_timestamp	2025-08-18 23:58:39
compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5601985] Jassal, Bijay, 2014-06-16
disease	[Disease:5600600] adrenal gland disease
endCoordinate	495
hasModifiedResidue	[ReplacedResidue:5601982] L-glutamic acid 380 replaced with L-aspartic acid
modified	[InstanceEdit:9964021] D'Eustachio, Peter, 2025-08-18
name	CYP21A2 E380D Cytochrome P450 XXIB CPS1_HUMAN
referenceEntity	[ReferenceGeneProduct:52702] UniProt:P08686 CYP21A2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5646954] R-HSA-5601934.2
startCoordinate	1
(hasMember)	[DefinedSet:5601989] CYP21A2 mutants [endoplasmic reticulum membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9964911] Update Tracker - [EntityWithAccessionedSequence:5601934] CYP21A2 E380D [endoplasmic reticulum membrane] - v94:[modifyEndCoordinate]
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No pathways have been reviewed or authored by CYP21A2 E380D [endoplasmic reticulum membrane] (5601934)