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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
A238V ECHS1 [mitochondrial matrix]
Show undefined attributes
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candidateOf
[CandidateSet:R-HSA-9916709] ECHS1 mutants [mitochondrial matrix] - Homo sapiens
compartment
[Compartment:5460] mitochondrial matrix
created
[InstanceEdit:9916660] Rothfels, Karen, 2024年07月25日
crossReference
[DatabaseIdentifier:11945059] Mondo:0014563
[DatabaseIdentifier:9916673] ClinGen:CA5765678
dbId
9916686
disease
[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
displayName
A238V ECHS1 [mitochondrial matrix]
endCoordinate
290
hasModifiedResidue
[ReplacedResidue:9916645] L-alanine 238 replaced with L-valine
inDisease
true
literatureReference
[LiteratureReference:9916626] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
maxDepth
1
name
A238V ECHS1
Enoyl-CoA hydratase, mitochondrial precursor
Short chain enoyl-CoA hydratase
Enoyl-CoA hydratase 1
referenceEntity
[ReferenceGeneProduct:uniprot:P30084] UniProt:P30084 ECHS1
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9916686
startCoordinate
28
Referrals
(hasCandidate)
[CandidateSet:R-HSA-9916709] ECHS1 mutants [mitochondrial matrix]
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