Reactome | SFTPB P121Efs*95 [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

SFTPB P121Efs*95 [endoplasmic reticulum membrane] Show undefined attributes

compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5688016] Jassal, Bijay, 2015-04-13
crossReference	[DatabaseIdentifier:12020948] Mondo:0700081 [DatabaseIdentifier:9831600] ClinGen:CA51754447
dbId	5688002
disease	[Disease:5683679] newborn respiratory distress syndrome [Disease:5688359] interstitial lung disease
displayName	SFTPB P121Efs*95 [endoplasmic reticulum membrane]
endCoordinate	214
hasModifiedResidue	[FragmentReplacedModification:5688001] Replacement of residues 121 to 214 by EPWSSTTSRTRLTQTASVCTWACANPGSQSQSRSQGCQTPCPNLCGTLCQTLCWTSSSSLCCPGPSRRGLGLTHRISPSSNSPFLSPIAGSAGL
inDisease	true
literatureReference	[LiteratureReference:5687998] A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds [LiteratureReference:5688023] Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency [LiteratureReference:9831596] Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency
maxDepth	1
memberOf	[DefinedSet:R-HSA-5688020] pro-SFTPB mutants [endoplasmic reticulum membrane] - Homo sapiens
modified	[InstanceEdit:9831598] Orlic-Milacic, Marija, 2023-03-22
name	SFTPB P121Efs*95 SFTPB 121ins2 Pulmonary surfactant-associated protein B (SP-B) SFTB_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:P07988] UniProt:P07988 SFTPB
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5688002
startCoordinate	13
updateTrackers	[UpdateTracker:9900203] Update Tracker - [EntityWithAccessionedSequence:5688002] SFTPB P121Efs95 [endoplasmic reticulum membrane] - v68:[add_removeCompartment] [UpdateTracker:9905335] Update Tracker - [EntityWithAccessionedSequence:5688002] SFTPB P121Efs95 [endoplasmic reticulum membrane] - v85:[addLiteratureReference, modifyEndCoordinate, modifyName, removeHasModifiedResidue]

Referrals

(updatedInstance)	[UpdateTracker:9900203] Update Tracker - [EntityWithAccessionedSequence:5688002] SFTPB P121Efs95 [endoplasmic reticulum membrane] - v68:[add_removeCompartment] [UpdateTracker:9905335] Update Tracker - [EntityWithAccessionedSequence:5688002] SFTPB P121Efs95 [endoplasmic reticulum membrane] - v85:[addLiteratureReference, modifyEndCoordinate, modifyName, removeHasModifiedResidue]
(hasMember)	[DefinedSet:R-HSA-5688020] pro-SFTPB mutants [endoplasmic reticulum membrane]