ALDH1B1

aldehyde dehydrogenase 1 family member B1, the group of Aldehyde dehydrogenases

Basic information

Region (hg38): 9:38392701-38398661

Previous symbols: [ "ALDH5" ]

Links

ENSG00000137124 ∙ NCBI:219 ∙ OMIM:100670 ∙ HGNC:407 ∙ Uniprot:P30837 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ALDH1B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH1B1 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					6	6
missense		1	45	2	4	52
nonsense						0
start loss						0
frameshift				2		2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	1	45	4	11

Variants in ALDH1B1

This is a list of pathogenic ClinVar variants found in the ALDH1B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-38395801-G-A		not specified	Uncertain significance (Aug 12, 2021)
9-38395833-A-G		not specified	Uncertain significance (Mar 07, 2024)
9-38395843-C-A		not specified	Uncertain significance (Oct 10, 2023)
9-38395900-A-G		not specified	Uncertain significance (Oct 02, 2023)
9-38395912-C-T		not specified	Uncertain significance (Dec 16, 2023)
9-38395915-C-T		not specified	Uncertain significance (Oct 25, 2022)
9-38395927-C-A		not specified	Uncertain significance (Jun 07, 2023)
9-38395931-C-T		not specified	Benign (Aug 29, 2013)
9-38395932-G-T		not specified	Uncertain significance (Apr 10, 2023)
9-38395941-A-G		not specified	Uncertain significance (Nov 17, 2023)
9-38395943-T-C		not specified	Benign (Sep 09, 2013)
9-38395966-G-A		not specified	Uncertain significance (Nov 15, 2021)
9-38395968-G-T		not specified	Uncertain significance (Oct 26, 2021)
9-38396005-C-T		not specified	Benign (Aug 29, 2013)
9-38396029-G-A			Uncertain significance (Jul 07, 2014)
9-38396031-C-T			Uncertain significance (Apr 18, 2014)
9-38396032-G-A		not specified	Likely benign (Jan 04, 2024)
9-38396035-T-A		not specified	Uncertain significance (Jan 23, 2023)
9-38396055-C-T		not specified	Uncertain significance (Mar 23, 2023)
9-38396067-C-T			not provided (-)
9-38396068-G-T		not specified	Benign (Sep 05, 2013)
9-38396079-C-G		not specified	Uncertain significance (Dec 01, 2022)
9-38396146-A-G			Uncertain significance (Apr 08, 2014)
9-38396160-G-C		not specified	Uncertain significance (Jul 27, 2022)
9-38396181-G-A		not specified	Uncertain significance (Aug 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALDH1B1	protein_coding	protein_coding	ENST00000377698	1	5998

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000270	0.532	122182	70	3496	125748	0.0143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.227	333	322	1.04	0.0000208	3366
Missense in Polyphen		106	105.44	1.0053		1235
Synonymous	0.494	133	140	0.947	0.00000925	1092
Loss of Function	0.781	10	13.0	0.767	7.25e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0729	0.0729
Ashkenazi Jewish	0.0139	0.0140
East Asian	0.00109	0.00109
Finnish	0.00129	0.00129
European (Non-Finnish)	0.00790	0.00787
Middle Eastern	0.00109	0.00109
South Asian	0.00297	0.00294
Other	0.0166	0.0168

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.
• Pathway: Tryptophan metabolism - Homo sapiens (human);Pyruvate metabolism - Homo sapiens (human);Arginine and proline metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);beta-Alanine metabolism - Homo sapiens (human);Lysine degradation - Homo sapiens (human);Histidine metabolism - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Ascorbate and aldarate metabolism - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Disulfiram Action Pathway;Ethanol Degradation;Phase I - Functionalization of compounds;Glutamate Glutamine metabolism;Glycolysis and Gluconeogenesis;Leukotriene metabolism;Ethanol oxidation;Biological oxidations;Metabolism;Lysine degradation;Propanoate metabolism;2,-deoxy-α-D-ribose 1-phosphate degradation;Histidine metabolism;Lysine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Valine, leucine and isoleucine degradation;Butanoate metabolism;Propanoate metabolism;Bile acid biosynthesis;Glycerophospholipid metabolism;Arginine Proline metabolism;Pyruvate metabolism;Tryptophan degradation;Valine Leucine Isoleucine degradation;Histidine degradation;putrescine degradation III (Consensus)

Recessive Scores

• pRec: 0.453

Intolerance Scores

• loftool: 0.574
• rvis_EVS: -0.04
• rvis_percentile_EVS: 50.45

Haploinsufficiency Scores

• pHI: 0.674
• hipred: N
• hipred_score: 0.248
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.642

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Aldh1b1
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: carbohydrate metabolic process;ethanol catabolic process;ethanol oxidation
• Cellular component: nucleoplasm;mitochondrion;mitochondrial matrix;intracellular membrane-bounded organelle
• Molecular function: aldehyde dehydrogenase (NAD) activity;glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity;NAD binding