Reactome | bicarbonate phosphorylation domain variants of CPS1 [mitochondrial matrix]

Schema > CandidateSet > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9955409] Rothfels, Karen, 2025-06-10
crossReference	[DatabaseIdentifier:12020905] Mondo:0009376
dbId	9955423
disease	[Disease:9955434] carbamoyl phosphate synthetase I deficiency disease
displayName	bicarbonate phosphorylation domain variants of CPS1 [mitochondrial matrix]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9955375] CPS1 R803G [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9955426] CPS1 R803S [mitochondrial matrix] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9955411] CPS1 A438P [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9955437] CPS1 T471N [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9955376] CPS1 T544M [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9955389] CPS1 Q678P [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9955408] CPS1 P774L [mitochondrial matrix] - Homo sapiens
inDisease	true
maxDepth	2
memberOf	[DefinedSet:R-HSA-9955386] CPS1 variants [mitochondrial matrix] - Homo sapiens
name	bicarbonate phosphorylation domain variants of CPS1
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9955423

(hasMember)

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