Reactome | CYP11A1 D271_V272insGD [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:5580263] Jassal, Bijay, 2014-06-09
crossReference	[DatabaseIdentifier:12020858] Mondo:0013400
dbId	5580258
disease	[Disease:5580265] congenital adrenal insufficiency
displayName	CYP11A1 D271_V272insGD [mitochondrial matrix]
endCoordinate	523
hasModifiedResidue	[FragmentReplacedModification:5601866] Replacement of residues 271 to 272 by DGDV
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5580242] CYP11A1 mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9832515] Orlic-Milacic, Marija, 2023-04-01
name	CYP11A1 D271_V272insGD Cytochrome P450 11A1
referenceEntity	[ReferenceGeneProduct:uniprot:P05108] UniProt:P05108 CYP11A1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5580258
startCoordinate	40
updateTrackers	[UpdateTracker:9905775] Update Tracker - [EntityWithAccessionedSequence:5580258] CYP11A1 D271_V272insGD [mitochondrial matrix] - v85:[removeHasModifiedResidue]

(updatedInstance)	[UpdateTracker:9905775] Update Tracker - [EntityWithAccessionedSequence:5580258] CYP11A1 D271_V272insGD [mitochondrial matrix] - v85:[removeHasModifiedResidue]
(hasMember)	[DefinedSet:R-HSA-5580242] CYP11A1 mutants [mitochondrial matrix]

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