Iodotyrosyl coupling defect: genes and variants
Iodotyrosyl coupling defect is linked to 1 analyzed protein (TG). 8 DNA variants are known to cause it; 158 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Iodotyrosyl coupling defect
TG: Thyroglobulin
It provides the large iodinated scaffold on which thyroid hormones are synthesized and stored within thyroid follicles. Biallelic or dominant pathogenic variants can impair hormone production and cause congenital hypothyroidism, often with goiter.
8 disease-causing and 158 uncertain variants in TG are linked to Iodotyrosyl coupling defect.
Where Iodotyrosyl coupling defect variants cluster
- TG Cholinesterase-like (ChEL) (positions 2188–2768): 4 of 8 disease-causing changes, 2.4× more than its size predicts.
Known disease-causing variants in Iodotyrosyl coupling defect
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TG G2375R | 2375 | Cholinesterase-like (ChEL) | Disease-causing (★★) |
| TG R2336Q | 2336 | Cholinesterase-like (ChEL) | Disease-causing (★★) |
| TG R2242H | 2242 | Cholinesterase-like (ChEL) | Disease-causing (★★) |
| TG C1728R | 1728 | Type IIIB | Disease-causing (★) |
| TG C1996S | 1996 | Type IIIB | Disease-causing |
| TG C2264Y | 2264 | Cholinesterase-like (ChEL) | Disease-causing |
| TG C1077R | 1077 | Thyroglobulin type-1 9 | Disease-causing |
| TG C1245R | 1245 | Disease-causing |
Which prediction tools work for Iodotyrosyl coupling defect
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to Iodotyrosyl coupling defect
- Hypothyroidism, also linked to TG
- Autoimmune thyroid disease, susceptibility to, 3, also linked to TG
Frequently asked questions
Which genes are linked to Iodotyrosyl coupling defect?
In CATVariant, Iodotyrosyl coupling defect is linked to 1 analyzed protein: TG (Thyroglobulin).
How many genetic variants are linked to Iodotyrosyl coupling defect?
193 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 158 are of uncertain significance or have conflicting reports.
Which uncertain variants in Iodotyrosyl coupling defect look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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