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Details on Person Nonsense mutation at L-alanine 2421

Class:Id	NonsenseMutation:1493100
_displayName	Nonsense mutation at L-alanine 2421
_timestamp	2025-10-06 20:27:18
coordinate	2421
created	[InstanceEdit:1493098] Orlic-Milacic, M, 2011-08-15
modified	[InstanceEdit:9763773] Orlic-Milacic, Marija, 2022-02-04 [InstanceEdit:9967734] D'Eustachio, Peter, 2025-10-06
psiMod	[PsiMod:611084] L-alanine removal [MOD:01631]
referenceSequence	[ReferenceGeneProduct:60520] UniProt:P46531 NOTCH1 [Homo sapiens]
(hasModifiedResidue)	[EntityWithAccessionedSequence:2159810] p-NICD1 G2420Afs3 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:2220960] NICD1 G2420Afs3 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:2220962] NICD1 G2420Afs3 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:2220986] NEXT1 G2420Afs3 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2768983] NOTCH1 G2420Afs3 Transmembrane Fragment [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2769009] NICD1 G2420Afs3 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:2769017] NICD1 G2420Afs*3 [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by Nonsense mutation at L-alanine 2421 (1493100)