Reactome Pathway Database
Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Reactome Pathway Database
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
R398Q IVD [mitochondrial matrix]
Show undefined attributes
Go to Details
candidateOf
[CandidateSet:R-HSA-9914827] IVD mutants [mitochondrial matrix] - Homo sapiens
compartment
[Compartment:5460] mitochondrial matrix
created
[InstanceEdit:9914798] Rothfels, Karen, 2024年06月27日
crossReference
[DatabaseIdentifier:11945054] Mondo:0009475
[DatabaseIdentifier:9914769] ClinGen:CA391724478
dbId
9914799
disease
[Disease:9914357] isovaleric acidemia
displayName
R398Q IVD [mitochondrial matrix]
endCoordinate
423
hasModifiedResidue
[ReplacedResidue:9914793] L-arginine 398 replaced with L-glutamine
inDisease
true
literatureReference
[LiteratureReference:9914719] Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
maxDepth
1
name
R398Q IVD
isovaleryl-CoA dehydrogenase, apoenzyme
IVD_HUMAN
Isovaleryl-CoA dehydrogenase, mitochondrial precursor
referenceEntity
[ReferenceGeneProduct:uniprot:P26440] UniProt:P26440 IVD
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9914799
startCoordinate
30
Referrals
(hasCandidate)
[CandidateSet:R-HSA-9914827] IVD mutants [mitochondrial matrix]
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text
Download
Close
AltStyle
によって変換されたページ
(->オリジナル)
/
アドレス:
モード:
デフォルト
音声ブラウザ
ルビ付き
配色反転
文字拡大
モバイル