ALDH3B1

aldehyde dehydrogenase 3 family member B1, the group of Aldehyde dehydrogenases

Basic information

Region (hg38): 11:68008578-68029282

Previous symbols: [ "ALDH7" ]

Links

ENSG00000006534 ∙ NCBI:221 ∙ OMIM:600466 ∙ HGNC:410 ∙ Uniprot:P43353 ∙ 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 ALDH3B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH3B1 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				3		3
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	3	0

Variants in ALDH3B1

This is a list of pathogenic ClinVar variants found in the ALDH3B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-68015322-C-T		not specified	Uncertain significance (Dec 14, 2021)
11-68015347-C-T		not specified	Uncertain significance (Jul 14, 2021)
11-68015436-G-A		not specified	Uncertain significance (Aug 17, 2021)
11-68021602-C-T		not specified	Uncertain significance (May 02, 2024)
11-68021627-C-T		not specified	Likely benign (Dec 12, 2023)
11-68021641-C-T		not specified	Uncertain significance (Mar 29, 2023)
11-68022627-G-C		not specified	Uncertain significance (Jan 27, 2022)
11-68026072-C-T		not specified	Uncertain significance (May 23, 2023)
11-68027828-C-T		not specified	Likely benign (Jun 02, 2023)
11-68027856-C-T		not specified	Uncertain significance (Aug 12, 2021)
11-68027876-G-A		not specified	Likely benign (Oct 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALDH3B1	protein_coding	protein_coding	ENST00000539229	12	20697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000624	0.898	771	124790	184	125745	0.922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.959	259	306	0.846	0.0000214	2954
Missense in Polyphen		68	92.921	0.7318		999
Synonymous	-0.107	130	128	1.01	0.00000967	894
Loss of Function	1.58	11	18.3	0.601	8.44e-7	201

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	2.00	1.90
Ashkenazi Jewish	1.00	0.886
East Asian	0.990	0.950
Finnish	1.00	0.924
European (Non-Finnish)	1.00	0.913
Middle Eastern	0.990	0.950
South Asian	1.00	0.945
Other	1.00	0.919

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation. {ECO:0000269|PubMed:17382292, ECO:0000269|PubMed:23721920}.
• Pathway: Glycolysis / Gluconeogenesis - Homo sapiens (human);beta-Alanine metabolism - Homo sapiens (human);Phenylalanine metabolism - Homo sapiens (human);Histidine metabolism - 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);Neutrophil degranulation;Metabolism of lipids;Innate Immune System;Immune System;Metabolism;Phenylalanine degradation;2,-deoxy-α-D-ribose 1-phosphate degradation;Tyrosine metabolism;Sphingolipid de novo biosynthesis;Sphingolipid metabolism;Histidine degradation;putrescine degradation III (Consensus)

Recessive Scores

• pRec: 0.110

Haploinsufficiency Scores

• pHI: 0.278
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.964

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aldh3b1
• Phenotype: hematopoietic system 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); immune system phenotype; skeleton phenotype

Gene ontology

• Biological process: alcohol metabolic process;ethanol catabolic process;lipid metabolic process;sphingolipid biosynthetic process;cellular response to oxidative stress;neutrophil degranulation;aldehyde catabolic process;oxidation-reduction process
• Cellular component: cytoplasm;cytosol;plasma membrane;secretory granule membrane;vesicle;specific granule membrane;extracellular exosome
• Molecular function: 3-chloroallyl aldehyde dehydrogenase activity;aldehyde dehydrogenase (NAD) activity;aldehyde dehydrogenase [NAD(P)+] activity;protein binding