Reactome | SHH(24-462) W117R [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5358400] Rothfels, Karen, 2014-03-28
dbId	5358401
disease	[Disease:5358398] holoprosencephaly
displayName	SHH(24-462) W117R [endoplasmic reticulum lumen]
endCoordinate	462
hasModifiedResidue	[ReplacedResidue:5358402] L-tryptophan 117 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:5358236] Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly
name	SHH(24-462) W117R 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-5358401
startCoordinate	24

(hasCandidate)

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