Reactome | SHH(24-462) L382P [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-5358452] SRR SHH variants [endoplasmic reticulum lumen] - Homo sapiens
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5358429] Rothfels, Karen, 2014-03-28
crossReference	[DatabaseIdentifier:12020839] Mondo:0016296
dbId	5358428
disease	[Disease:5358398] holoprosencephaly
displayName	SHH(24-462) L382P [endoplasmic reticulum lumen]
endCoordinate	462
hasModifiedResidue	[ReplacedResidue:5358408] L-leucine 382 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:5358247] The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
maxDepth	1
name	SHH(24-462) L382P Sonic hedgehog protein precursor SHH SHH_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q15465] UniProt:Q15465 SHH
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5358428
startCoordinate	24

(hasCandidate)

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