ALDH16A1

aldehyde dehydrogenase 16 family member A1, the group of Aldehyde dehydrogenases

Basic information

Region (hg38): 19:49453224-49471050

Links

ENSG00000161618 ∙ NCBI:126133 ∙ OMIM:613358 ∙ HGNC:28114 ∙ Uniprot:Q8IZ83 ∙ 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 ALDH16A1 gene.

• Inborn genetic diseases (43 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH16A1 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				4		4
missense			39	5		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	39	9	1

Variants in ALDH16A1

This is a list of pathogenic ClinVar variants found in the ALDH16A1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49453356-C-A		not specified	Likely benign (Jul 05, 2023)
19-49453359-G-C		not specified	Uncertain significance (Mar 01, 2024)
19-49453398-C-T		not specified	Uncertain significance (Jan 13, 2023)
19-49458535-A-G		not specified	Uncertain significance (Oct 22, 2021)
19-49459053-A-T		not specified	Likely benign (Sep 07, 2022)
19-49459670-G-A		not specified	Likely benign (Jun 30, 2023)
19-49459734-C-T		not specified	Uncertain significance (Sep 27, 2021)
19-49459753-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-49459764-G-A		not specified	Uncertain significance (Jan 10, 2023)
19-49460822-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-49460848-A-G		not specified	Uncertain significance (Aug 22, 2023)
19-49460887-G-A		not specified	Uncertain significance (Dec 09, 2023)
19-49460893-G-T		not specified	Uncertain significance (Jul 19, 2023)
19-49460909-G-A			Benign (Sep 07, 2017)
19-49461733-C-T		not specified	Uncertain significance (Sep 25, 2023)
19-49461770-C-G		not specified	Uncertain significance (May 23, 2023)
19-49461796-C-G		not specified	Uncertain significance (Nov 09, 2021)
19-49461796-C-T		not specified	Likely benign (Aug 22, 2023)
19-49461888-G-A		not specified	Uncertain significance (Dec 02, 2022)
19-49461890-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-49461911-G-A		not specified	Uncertain significance (Dec 09, 2023)
19-49461912-C-A		not specified	Uncertain significance (Dec 09, 2023)
19-49461913-G-A			Likely benign (Apr 01, 2023)
19-49461915-G-A			Likely benign (Dec 04, 2017)
19-49461924-C-G		not specified	Uncertain significance (Sep 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALDH16A1	protein_coding	protein_coding	ENST00000293350	17	17880

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.37e-20	0.0488	125639	0	109	125748	0.000434

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.422	530	503	1.05	0.0000332	4943
Missense in Polyphen		197	202.57	0.97251		2106
Synonymous	0.0319	228	229	0.997	0.0000160	1805
Loss of Function	1.15	35	43.1	0.812	0.00000248	412

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000928	0.000925
Ashkenazi Jewish	0.000510	0.000496
East Asian	0.00105	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.000362	0.000352
Middle Eastern	0.00105	0.00103
South Asian	0.000465	0.000457
Other	0.000497	0.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.832
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.36

Haploinsufficiency Scores

• pHI: 0.0847
• hipred: N
• hipred_score: 0.328
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.722

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aldh16a1
• Phenotype: vision/eye phenotype; pigmentation phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: membrane
• Molecular function: oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor