TALDO1

transaldolase 1

Basic information

Region (hg38): 11:747415-765012

Links

ENSG00000177156 ∙ NCBI:6888 ∙ OMIM:602063 ∙ HGNC:11559 ∙ Uniprot:P37837 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• transaldolase deficiency (Strong), mode of inheritance: AR
• transaldolase deficiency (Supportive), mode of inheritance: AR
• transaldolase deficiency (Moderate), mode of inheritance: AR
• transaldolase deficiency (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Transaldolase deficiency	AR	Biochemical; Pharmacogenomic	The use of N--acetylcysteine therapy has been reported as beneficial related to at least laboratory-based parameters; Studies have suggested that individuals may be sensitive to acetaminophen therapy, and that this medication should be avoided due to the risk of toxicity	Biochemical; Cardiovascular; Craniofacial; Dermatologic; Gastrointestinal; Hematologic; Renal	11283793; 15877206; 17095351; 19401148; 21119539; 23315216; 27130472; 29923087

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TALDO1 gene.

• Deficiency of transaldolase (4 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TALDO1 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			5	38	1	44
missense	1	2	77	8		88
nonsense		1	2			3
start loss			1			1
frameshift	3	2				5
inframe indel			1			1
splice donor/acceptor (+/-2bp)		2	1			3
splice region			3	7	1	11
non coding			7	30	3	40
Total	4	7	94	76	4

Highest pathogenic variant AF is 0.0000132

Variants in TALDO1

This is a list of pathogenic ClinVar variants found in the TALDO1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-747445-T-C		Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)
11-747445-TCGCCGCCGCCGC-T		Deficiency of transaldolase	Likely benign (Jun 14, 2016)
11-747445-T-TCGC		Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)
11-747452-C-T		Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)
11-747476-C-T		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)
11-747482-A-G		See cases	Uncertain significance (Nov 30, 2020)
11-747489-G-A		Inborn genetic diseases	Uncertain significance (Mar 11, 2022)
11-747491-T-C		TALDO1-related disorder	Likely benign (Sep 30, 2023)
11-747497-G-C		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
11-747503-C-A			Uncertain significance (Jul 14, 2022)
11-747511-G-A			Likely benign (Nov 13, 2023)
11-747517-G-A		Deficiency of transaldolase	Conflicting classifications of pathogenicity (Jan 18, 2024)
11-747529-C-T		Deficiency of transaldolase	Uncertain significance (Jan 12, 2018)
11-747532-G-A			Likely benign (Feb 19, 2023)
11-747536-A-C		Inborn genetic diseases • TALDO1-related disorder	Conflicting classifications of pathogenicity (Jan 22, 2024)
11-747542-T-A		TALDO1-related disorder	Uncertain significance (Jul 02, 2024)
11-747542-T-C			Uncertain significance (Jun 27, 2022)
11-747544-C-A			Uncertain significance (Mar 19, 2022)
11-747547-C-T			Likely benign (May 04, 2018)
11-747549-C-G		Inborn genetic diseases • TALDO1-related disorder • Deficiency of transaldolase	Uncertain significance (Aug 28, 2022)
11-747551-G-T			Uncertain significance (May 05, 2022)
11-747559-C-G		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)
11-747577-C-T		TALDO1-related disorder	Uncertain significance (Aug 12, 2022)
11-747579-G-A			Likely pathogenic (Oct 20, 2022)
11-747595-G-T			Likely benign (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TALDO1	protein_coding	protein_coding	ENST00000319006	8	17696

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000252	0.755	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.13	239	195	1.23	0.0000124	2194
Missense in Polyphen		77	67.707	1.1373		836
Synonymous	-0.957	93	82.0	1.13	0.00000578	648
Loss of Function	1.22	11	16.3	0.673	8.94e-7	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway.
• Disease: DISEASE: Transaldolase deficiency (TALDOD) [MIM:606003]: An inborn error of the pentose phosphate pathway resulting in early-onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency. {ECO:0000269|PubMed:11283793}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Pentose phosphate pathway - Homo sapiens (human);Warburg Effect;Pentose Phosphate Pathway;Glucose-6-phosphate dehydrogenase deficiency;Ribose-5-phosphate isomerase deficiency;Transaldolase deficiency;Pentose Phosphate Pathway;Cori Cycle;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Pentose phosphate pathway (hexose monophosphate shunt);Metabolism of carbohydrates;Insulin effects increased synthesis of Xylulose-5-Phosphate;Metabolism;Pentose phosphate cycle;pentose phosphate pathway (non-oxidative branch);pentose phosphate pathway;Integration of energy metabolism (Consensus)

Recessive Scores

• pRec: 0.459

Intolerance Scores

• loftool: 0.165
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.02

Haploinsufficiency Scores

• pHI: 0.332
• hipred: Y
• hipred_score: 0.524
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taldo1
• Phenotype: reproductive system phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: carbohydrate metabolic process;xylulose biosynthetic process;fructose 6-phosphate metabolic process;pentose-phosphate shunt;pentose-phosphate shunt, non-oxidative branch;interleukin-12-mediated signaling pathway
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;extracellular exosome
• Molecular function: sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity;protein binding;monosaccharide binding