Reactome | ub SRR SHH variants [cytosol]

Schema > CandidateSet > Entries

candidateOf	[CandidateSet:R-HSA-5387369] ub-SHH variants [cytosol] - Homo sapiens
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5387367] Rothfels, Karen, 2014-04-29
crossReference	[DatabaseIdentifier:12020839] Mondo:0016296
dbId	5387370
disease	[Disease:5358398] holoprosencephaly
displayName	ub SRR SHH variants [cytosol]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-5387363] ub SHH(24-462) A373T [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387355] ub SHH(24-462) A376D [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387366] ub SHH(24-462) A383T [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387360] ub SHH(24-462) H374R [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387357] ub SHH(24-462) L382P [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387364] ub SHH(24-462) P377S [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387359] ub SHH(24-462) R381P [cytosol] - Homo sapiens
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	2
name	ub SRR SHH variants
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5387370

(hasCandidate)