Reactome | SRR SHH variants [endoplasmic reticulum lumen]

Schema > CandidateSet > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5358451] Rothfels, Karen, 2014-03-28
dbId	5358452
disease	[Disease:5358398] holoprosencephaly
displayName	SRR SHH variants [endoplasmic reticulum lumen]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-5358448] SHH(24-462) A373T [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358445] SHH(24-462) A376D [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358444] SHH(24-462) A383T [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358430] SHH(24-462) H374R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358428] SHH(24-462) L382P [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358427] SHH(24-462) P377S [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5358425] SHH(24-462) R381P [endoplasmic reticulum lumen] - 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
modified	[InstanceEdit:5387397] Rothfels, Karen, 2014-04-29
name	SRR SHH variants
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5358452

(hasCandidate)