Reactome | ABCA3 D253H [lamellar body membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:2133233] lamellar body membrane
created	[InstanceEdit:5683687] Jassal, Bijay, 2015-03-16
crossReference	[DatabaseIdentifier:12020948] Mondo:0700081
dbId	5683697
disease	[Disease:5683679] newborn respiratory distress syndrome
displayName	ABCA3 D253H [lamellar body membrane]
endCoordinate	1704
hasModifiedResidue	[ReplacedResidue:5683674] L-aspartic acid 253 replaced with L-histidine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5683704] ABCA3 mutants [lamellar body membrane] - Homo sapiens
name	ABCA3 D253H ATP-binding cassette sub-family A member 3 ABCA3_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q99758] UniProt:Q99758 ABCA3
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5683697
startCoordinate	1

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