Deficiency of iodide peroxidase: genes and variants
Deficiency of iodide peroxidase is linked to 1 analyzed protein (TPO). 20 DNA variants are known to cause it; 47 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 Deficiency of iodide peroxidase
TPO: Thyroid peroxidase
It oxidizes iodide and catalyzes iodination and coupling reactions on thyroglobulin that generate thyroid hormones. Biallelic loss-of-function variants cause thyroid dyshormonogenesis and congenital hypothyroidism, usually with goiter if untreated.
20 disease-causing and 47 uncertain variants in TPO are linked to Deficiency of iodide peroxidase.
Where Deficiency of iodide peroxidase variants cluster
- TPO EGF-like (positions 796–839): 3 of 20 disease-causing changes, 3.2× more than its size predicts.
Known disease-causing variants in Deficiency of iodide peroxidase
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TPO Q660E | 660 | Extracellular | Disease-causing (★★★★) |
| TPO R665W | 665 | Extracellular | Disease-causing (★★) |
| TPO Y453D | 453 | Extracellular | Disease-causing (★★) |
| TPO G493S | 493 | Extracellular | Disease-causing (★★) |
| TPO R665Q | 665 | Extracellular | Disease-causing (★★) |
| TPO G860R | 860 | Transmembrane | Disease-causing (★★) |
| TPO E799K | 799 | EGF-like | Disease-causing (★★) |
| TPO G803R | 803 | EGF-like | Disease-causing (★★) |
| TPO S131P | 131 | Extracellular | Disease-causing (★) |
| TPO E337K | 337 | Extracellular | Disease-causing (★) |
| TPO R412H | 412 | Extracellular | Disease-causing (★) |
| TPO C825R | 825 | EGF-like | Disease-causing (★) |
| TPO R152K | 152 | Extracellular | Disease-causing (★) |
| TPO G771R | 771 | Sushi | Disease-causing (★) |
| TPO Y772C | 772 | Sushi | Disease-causing (★) |
| TPO G387R | 387 | Extracellular | Disease-causing (★) |
| TPO H520Y | 520 | Extracellular | Disease-causing (★) |
| TPO D240G | 240 | Extracellular | Disease-causing |
| TPO I447F | 447 | Extracellular | Disease-causing |
| TPO G590S | 590 | Extracellular | Disease-causing |
Which prediction tools work for Deficiency of iodide peroxidase
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- AlphaMissense: 98 out of 100
- MetaLR: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 93 out of 100
- EVE: 92 out of 100
Diseases related to Deficiency of iodide peroxidase
- Hyperthyroidism, also linked to TPO
- Hypothyroidism, also linked to TPO
Frequently asked questions
Which genes are linked to Deficiency of iodide peroxidase?
In CATVariant, Deficiency of iodide peroxidase is linked to 1 analyzed protein: TPO (Thyroid peroxidase).
How many genetic variants are linked to Deficiency of iodide peroxidase?
78 variants: 20 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 47 are of uncertain significance or have conflicting reports.
Which uncertain variants in Deficiency of iodide peroxidase look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Deficiency of iodide peroxidase?
Among tools not trained on clinical labels, AlphaMissense separates this disease's known disease-causing variants from harmless ones best (AUROC 0.98, based on 18 disease-causing and 19 harmless variants).
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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