ADH1B

alcohol dehydrogenase 1B (class I), beta polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99304970-99352760

Previous symbols: [ "ADH2" ]

Links

ENSG00000196616 ∙ NCBI:125 ∙ OMIM:103720 ∙ HGNC:250 ∙ Uniprot:P00325 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADH1B gene.

• Inborn genetic diseases (18 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH1B 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				1	3	4
missense			17	1	2	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	17	2	5

Variants in ADH1B

This is a list of pathogenic ClinVar variants found in the ADH1B region.

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

Position	Type	Phenotype	Significance	ClinVar
4-99307850-A-C		not specified	Uncertain significance (May 23, 2023)
4-99307860-G-A		Alcohol dependence	protective (Jan 01, 2007)
4-99310760-T-C			Benign (May 24, 2018)
4-99310850-T-C		not specified	Uncertain significance (Nov 15, 2021)
4-99310858-A-G		not specified	Uncertain significance (Feb 27, 2024)
4-99310896-C-A		not specified	Uncertain significance (Mar 06, 2023)
4-99311547-C-T		not specified	Uncertain significance (Dec 03, 2021)
4-99311607-A-G		not specified	Uncertain significance (Mar 01, 2024)
4-99311614-C-A		not specified	Uncertain significance (Dec 17, 2023)
4-99311642-T-G		not specified	Uncertain significance (Oct 25, 2023)
4-99313875-C-T		not specified	Uncertain significance (Jun 13, 2023)
4-99313936-G-A		not specified	Uncertain significance (Aug 28, 2023)
4-99313971-G-T		not specified	Uncertain significance (Apr 05, 2023)
4-99313983-C-A			Benign (Aug 17, 2018)
4-99313984-G-A		not specified	Uncertain significance (Sep 01, 2021)
4-99314010-T-G		not specified	Uncertain significance (Nov 18, 2022)
4-99314037-G-A			Benign (Dec 31, 2019)
4-99314075-G-A		not specified	Uncertain significance (Oct 13, 2023)
4-99315907-G-T		not specified	Likely benign (Mar 07, 2023)
4-99315931-C-T			Likely benign (Apr 25, 2018)
4-99315948-T-C		not specified	Uncertain significance (Oct 06, 2021)
4-99315970-C-T			Benign (Aug 29, 2018)
4-99315971-G-A		not specified	Uncertain significance (Nov 02, 2023)
4-99315975-C-A		not specified	Uncertain significance (Oct 26, 2022)
4-99316097-G-T		not specified	Uncertain significance (Apr 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADH1B	protein_coding	protein_coding	ENST00000305046	9	16438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.93e-7	0.557	125696	0	51	125747	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.383	231	215	1.07	0.0000115	2436
Missense in Polyphen		74	77.417	0.95586		898
Synonymous	-0.631	92	84.6	1.09	0.00000500	768
Loss of Function	0.886	11	14.7	0.750	6.17e-7	205

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000524	0.000524
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000229	0.000220
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Celecoxib Pathway, Pharmacokinetics;Retinol metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Abacavir Pathway, Pharmacokinetics/Pharmacodynamics;Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Disulfiram Action Pathway;Celecoxib Action Pathway;Ethanol Degradation;Celecoxib Metabolism Pathway;Fatty Acid Omega Oxidation;Ethanol effects on histone modifications;Phase I - Functionalization of compounds;ethanol degradation II;acetone degradation I (to methylglyoxal);Ethanol oxidation;Biological oxidations;Metabolism;serotonin degradation;superpathway of tryptophan utilization;Tyrosine metabolism;noradrenaline and adrenaline degradation (Consensus)

Recessive Scores

• pRec: 0.436

Intolerance Scores

• loftool: 0.661
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.55

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.183
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0509

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Adh1
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: ethanol oxidation;retinol metabolic process;retinoic acid metabolic process
• Cellular component: nucleoplasm;cytosol;plasma membrane
• Molecular function: alcohol dehydrogenase activity, zinc-dependent;retinol dehydrogenase activity;zinc ion binding