HIBADH

3-hydroxyisobutyrate dehydrogenase

Basic information

Region (hg38): 7:27525442-27662883

Links

ENSG00000106049NCBI:11112OMIM:608475HGNC:4907Uniprot:P31937AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • 3-hydroxyisobutyric aciduria (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HIBADH gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HIBADH gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
17
clinvar
1
clinvar
18
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 18 1 0

Variants in HIBADH

This is a list of pathogenic ClinVar variants found in the HIBADH region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-27531245-C-T not specified Uncertain significance (Feb 28, 2023)2466173
7-27531296-G-A not specified Uncertain significance (Dec 01, 2022)2394312
7-27531323-C-A HIBADH-related disorder Likely benign (Feb 22, 2023)3035525
7-27531334-G-T not specified Uncertain significance (Jan 18, 2022)2271974
7-27538378-T-C not specified Uncertain significance (May 05, 2023)2544395
7-27538416-G-T not specified Uncertain significance (Jun 22, 2021)2234241
7-27543001-T-C not specified Uncertain significance (Jun 27, 2022)2339659
7-27543002-T-TG Uncertain significance (Nov 01, 2018)810079
7-27543014-A-G Uncertain significance (Aug 01, 2023)2657365
7-27543070-G-A not specified Uncertain significance (May 17, 2023)2522810
7-27543085-C-A not specified Uncertain significance (May 14, 2024)3284253
7-27629421-T-C not specified Uncertain significance (Dec 06, 2021)2357346
7-27649480-C-T not specified Uncertain significance (Apr 11, 2023)2535889
7-27649496-C-T not specified Uncertain significance (Oct 16, 2023)3105764
7-27649573-C-T not specified Uncertain significance (Mar 31, 2024)3284254
7-27649592-T-C not specified Uncertain significance (Apr 01, 2024)3284255
7-27662700-G-A not specified Uncertain significance (Sep 13, 2023)2623456
7-27662716-C-A Uncertain significance (Aug 01, 2023)2657366
7-27662718-G-A not specified Uncertain significance (Aug 17, 2021)2246006
7-27662721-G-A not specified Uncertain significance (Feb 06, 2024)3105766
7-27662758-C-T not specified Uncertain significance (Feb 26, 2024)3105765
7-27662767-G-A not specified Uncertain significance (Mar 23, 2023)2528900

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HIBADHprotein_codingprotein_codingENST00000265395 8137554
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.005630.9741257290171257460.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1311671720.9720.000008332156
Missense in Polyphen4665.6010.70121779
Synonymous-0.4996762.01.080.00000321681
Loss of Function2.02614.20.4226.94e-7195

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002760.000275
Ashkenazi Jewish0.000.00
East Asian0.00005450.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00005350.0000527
Middle Eastern0.00005450.0000544
South Asian0.0001320.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Valine, leucine and isoleucine degradation - Homo sapiens (human);3-Methylglutaconic Aciduria Type I;Valine, Leucine and Isoleucine Degradation;2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency;Isovaleric Aciduria;3-Methylcrotonyl Coa Carboxylase Deficiency Type I;Propionic Acidemia;Maple Syrup Urine Disease;3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency;Isobutyryl-coa dehydrogenase deficiency;3-hydroxyisobutyric aciduria;3-hydroxyisobutyric acid dehydrogenase deficiency;Isovaleric acidemia;Methylmalonate Semialdehyde Dehydrogenase Deficiency;Methylmalonic Aciduria;3-Methylglutaconic Aciduria Type IV;3-Methylglutaconic Aciduria Type III;Beta-Ketothiolase Deficiency;Amino Acid metabolism;Branched-chain amino acid catabolism;Metabolism of amino acids and derivatives;Metabolism;valine degradation;Valine, leucine and isoleucine degradation;Valine Leucine Isoleucine degradation (Consensus)

Recessive Scores

pRec
0.290

Intolerance Scores

loftool
0.572
rvis_EVS
-0.43
rvis_percentile_EVS
25.15

Haploinsufficiency Scores

pHI
0.367
hipred
Y
hipred_score
0.565
ghis
0.593

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.997

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hibadh
Phenotype
hematopoietic system phenotype; immune system phenotype; skeleton phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
valine catabolic process;branched-chain amino acid catabolic process;oxidation-reduction process
Cellular component
mitochondrion;mitochondrial matrix
Molecular function
3-hydroxyisobutyrate dehydrogenase activity;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;NADP binding;NAD binding