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Search ...
Go!
Schema
>
CandidateSet
>
Entries
ub SRR SHH variants [cytosol]
Show undefined attributes
Go to Details
candidateOf
[CandidateSet:R-HSA-5387369] ub-SHH variants [cytosol] - Homo sapiens
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:5387367] Rothfels, Karen, 2014年04月29日
crossReference
[DatabaseIdentifier:11944982] 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
Referrals
(hasCandidate)
[CandidateSet:R-HSA-5387369] ub-SHH variants [cytosol]
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