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.

not_provided (181 variants)
Inborn_genetic_diseases (51 variants)
Deficiency_of_transaldolase (48 variants)
TALDO1-related_disorder (41 variants)
Cataract (1 variants)
Microcephaly (1 variants)
See_cases (1 variants)
Severe_global_developmental_delay (1 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. These statistics are base on transcript: NM_000006755.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			9 clinvar	56 clinvar	2 clinvar	67
missense	3 clinvar	4 clinvar	105 clinvar	6 clinvar	1 clinvar	119
nonsense	4 clinvar	1 clinvar	1 clinvar			6
start loss			1			1
frameshift	3 clinvar	3 clinvar	1 clinvar			7
splice donor/acceptor (+/-2bp)		4 clinvar	1 clinvar			5
Total	10	12	118	62	3

Highest pathogenic variant AF is 0.000042766722

Loading clinvar variants...

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