R340Q IVD [mitochondrial matrix]

Stable Identifier
R-HSA-9914810
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
isovaleryl-CoA dehydrogenase, apoenzyme, IVD_HUMAN, Isovaleryl-CoA dehydrogenase, mitochondrial precursor
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
34535384 Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

D'Annibale, OM, Koppes, EA, Alodaib, AN, Kochersperger, C, Karunanidhi, A, Mohsen, AW, Vockley, J

Mol Genet Metab 2021
External Reference Information
External Reference
UniProt:P26440 IVD
Gene Names
IVD
Chain
transit peptide:1-32, chain:33-426
Reference Genes
BioGPS Gene:3712 IVD
COSMIC - genes:IVD IVD
CTD Gene:3712 IVD
dbSNP Gene:3712 IVD
ENSEMBL:ENSG00000128928 IVD
HGNC:6186 IVD
KEGG:hsa:3712 IVD
Monarch:3712 IVD
NCBI Gene:3712 IVD
OMIM:607036 IVD
UCSC:P26440 IVD
Reference Transcript
Other Identifiers
11720642_a_at
11720643_a_at
16799538
203682_PM_s_at
203682_s_at
216958_PM_s_at
216958_s_at
225311_PM_at
225311_at
3589906
3589907
3589908
3589909
3589910
3589911
3589912
3589915
3589916
3589917
3589918
3589919
3589920
3589921
3589922
3589923
3589924
3589925
3589926
3589927
3589928
3589930
3589931
3589932
3589933
3589934
3589935
3589936
3589937
3589938
3589944
3712
37342_s_at
63548_at
78746_at
7982723
81819_at
A_21_P0008622
A_23_P129313
A_23_P129322
A_33_P3269718
GE58276
GE86159
GE86160
GO:0003995
GO:0005515
GO:0005654
GO:0005739
GO:0005759
GO:0006520
GO:0006552
GO:0006629
GO:0006631
GO:0008470
GO:0009083
GO:0016491
GO:0016627
GO:0016937
GO:0019752
GO:0031966
GO:0033539
GO:0042802
GO:0050660
HMNXSV003014601
HMNXSV003025668
HMNXSV003033658
HMNXSV003042078
Hs.279789.5.A1_3p_at
Hs.279789.5.A1_3p_x_at
Hs.77510.2.S1_3p_a_at
ILMN_1724207
M34192_at
PH_hs_0024828
TC15000284.hg
TC15002158.hg
g6031167_3p_a_at
Participates
as a member of
Other forms of this molecule
IVD [mitochondrial matrix]
R398Q IVD [mitochondrial matrix]
I379T IVD [mitochondrial matrix]
Y403N IVD [mitochondrial matrix]
D72N IVD [mitochondrial matrix]
V374A IVD [mitochondrial matrix]
R53P IVD [mitochondrial matrix]
G123R IVD [mitochondrial matrix]
R395C IVD [mitochondrial matrix]
M332T IVD [mitochondrial matrix]
A314V IVD [mitochondrial matrix]
L45P IVD [mitochondrial matrix]
R414L IVD [mitochondrial matrix]
T239I IVD [mitochondrial matrix]
C360R IVD [mitochondrial matrix]
Modified Residues
Name
L-arginine 340 replaced with L-glutamine
Coordinate
340
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
isovaleric acidemia DOID:14753 Isovaleryl-CoA dehydrogenase deficiency, isovaleric acid CoA dehydrogenase deficiency, isovaleric aciduria
Cross References
RefSeq
ClinGen
ENSEMBL
OpenTargets
Mondo
PRO
PDB
IntEnz
HPA
GeneCards
IVD
Pharos - Targets
Orphanet
IVD
HMDB Protein
Interactors (2)
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