Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

V339M MCCC2 [mitochondrial matrix] Show undefined attributes

compartment

[Compartment:5460] mitochondrial matrix

created [InstanceEdit:9909458] Rothfels, Karen, 2024年05月13日

crossReference

dbId 9909455

disease

displayName V339M MCCC2 [mitochondrial matrix]

endCoordinate 563

hasModifiedResidue

[ReplacedResidue:9909453] L-valine 339 replaced with L-methionine

inDisease true

literatureReference

[LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

maxDepth 1

memberOf

[DefinedSet:R-HSA-9914221] MCCC2 mutants [mitochondrial matrix] - Homo sapiens

modified [InstanceEdit:9914207] Rothfels, Karen, 2024年06月21日

name

V339M MCCC2
methylcrotonyl-CoA carboxylase beta chain

referenceEntity [ReferenceGeneProduct:uniprot:Q9HCC0] UniProt:Q9HCC0 MCCC2

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9909455

startCoordinate 23

Referrals

(hasMember)

[DefinedSet:R-HSA-9914221] MCCC2 mutants [mitochondrial matrix]

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