ALDH8A1

aldehyde dehydrogenase 8 family member A1, the group of Aldehyde dehydrogenases

Basic information

Region (hg38): 6:134917393-134950115

Links

ENSG00000118514 ∙ NCBI:64577 ∙ OMIM:606467 ∙ HGNC:15471 ∙ Uniprot:Q9H2A2 ∙ 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 ALDH8A1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH8A1 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	1	2
missense			37	1	1	39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	2	2

Variants in ALDH8A1

This is a list of pathogenic ClinVar variants found in the ALDH8A1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-134918488-C-G		not specified	Uncertain significance (Jun 05, 2023)
6-134918507-C-T		not specified	Uncertain significance (Mar 20, 2023)
6-134918581-C-T		not specified	Uncertain significance (Sep 28, 2022)
6-134918582-G-A		not specified	Uncertain significance (Jan 10, 2023)
6-134918606-A-T		not specified	Uncertain significance (Dec 28, 2022)
6-134918633-T-G		not specified	Uncertain significance (Jun 22, 2021)
6-134918636-C-T		not specified	Uncertain significance (Jul 05, 2022)
6-134918682-G-A			Likely benign (Nov 01, 2022)
6-134918777-G-T		not specified	Uncertain significance (Nov 10, 2022)
6-134918803-T-C			Likely benign (Nov 01, 2022)
6-134918804-C-T		not specified	Uncertain significance (Oct 22, 2021)
6-134918816-C-T		not specified	Uncertain significance (Oct 21, 2021)
6-134918851-T-C		not specified	Uncertain significance (Jan 31, 2024)
6-134918860-C-G		not specified	Uncertain significance (Jun 06, 2023)
6-134929063-A-C		not specified	Uncertain significance (Apr 28, 2023)
6-134929088-A-G		not specified	Uncertain significance (Feb 05, 2024)
6-134929129-T-G		not specified	Uncertain significance (Aug 02, 2021)
6-134932859-C-T		not specified	Uncertain significance (Dec 05, 2022)
6-134932896-G-A			Benign (May 15, 2018)
6-134932906-G-C		not specified	Uncertain significance (Dec 09, 2023)
6-134932913-G-A		not specified	Uncertain significance (Nov 08, 2022)
6-134932934-C-T		not specified	Uncertain significance (Sep 12, 2023)
6-134932943-A-G		not specified	Uncertain significance (Sep 20, 2023)
6-134933018-C-T		not specified	Uncertain significance (Jan 09, 2024)
6-134939315-C-G		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALDH8A1	protein_coding	protein_coding	ENST00000265605	7	32733

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.48e-12	0.0376	125684	0	64	125748	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.495	268	292	0.918	0.0000172	3183
Missense in Polyphen		111	128.43	0.86426		1329
Synonymous	0.497	115	122	0.943	0.00000835	972
Loss of Function	0.0524	18	18.2	0.987	7.72e-7	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000879	0.000879
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000326	0.000326
South Asian	0.000425	0.000425
Other	0.000818	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro). {ECO:0000269|PubMed:11007799}.
• Pathway: Signal Transduction;RA biosynthesis pathway;Signaling by Retinoic Acid;Signaling by Nuclear Receptors (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.824
• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.9

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.352
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.296

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aldh8a1

Zebrafish Information Network

• Gene name: aldh8a1
• Affected structure: liver
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: retinoic acid metabolic process;retinal metabolic process;9-cis-retinoic acid biosynthetic process;oxidation-reduction process
• Cellular component: cytosol;extracellular exosome
• Molecular function: retinal dehydrogenase activity