Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

ABCA4 A1028V [photoreceptor disc membrane] Show undefined attributes

compartment

[Compartment:2514888] photoreceptor disc membrane

created [InstanceEdit:2466812] Jassal, Bijay, 2012年09月12日

crossReference

[DatabaseIdentifier:11944901] Mondo:0003004

dbId 2466850

disease

[Disease:2471741] macular degeneration

displayName ABCA4 A1028V [photoreceptor disc membrane]

endCoordinate 2273

hasModifiedResidue

[ReplacedResidue:2466795] L-alanine 1028 replaced with L-valine

inDisease true

maxDepth 1

memberOf

[DefinedSet:R-HSA-2466752] ABCA4 mutants [photoreceptor disc membrane] - Homo sapiens

modified [InstanceEdit:9634481] Jassal, Bijay, 2019年01月11日

name

ABCA4 A1028V
Retinal-specific ATP-binding cassette transporter
ABCA4_HUMAN
ABCA4

referenceEntity [ReferenceGeneProduct:uniprot:P78363] UniProt:P78363 ABCA4

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-2466850

startCoordinate 1

updateTrackers

Referrals

(updatedInstance)

(hasMember)

[DefinedSet:R-HSA-2466752] ABCA4 mutants [photoreceptor disc membrane]

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