Reactome | SHH(24-462) G196V [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5358432] Rothfels, Karen, 2014-03-28
dbId	5358433
disease	[Disease:5358398] holoprosencephaly
displayName	SHH(24-462) G196V [endoplasmic reticulum lumen]
endCoordinate	462
hasModifiedResidue	[ReplacedResidue:5358434] glycine 196 replaced with L-valine
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
name	SHH(24-462) G196V Sonic hedgehog protein precursor SHH SHH_HUMAN
referenceEntity	[ReferenceGeneProduct:64432] UniProt:Q15465 SHH
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5358433
startCoordinate	24

(hasCandidate)

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