METHEMOGLOBINEMIA, BETA TYPE: genes and variants
METHEMOGLOBINEMIA, BETA TYPE is linked to 1 analyzed protein (HBB). 10 DNA variants are known to cause it; 5 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 METHEMOGLOBINEMIA, BETA TYPE
HBB: Hemoglobin subunit beta
Beta-globin, one of the two major protein chains in adult hemoglobin. Hemoglobin uses these chains to transport oxygen from the lungs to tissues, and HBB variants are associated with sickle-cell disease and beta-thalassemia.
10 disease-causing and 5 uncertain variants in HBB are linked to METHEMOGLOBINEMIA, BETA TYPE.
Known disease-causing variants in METHEMOGLOBINEMIA, BETA TYPE
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HBB R31K | 31 | Globin | Disease-causing (★★) |
| HBB E122K | 122 | Globin | Disease-causing (★★) |
| HBB E122Q | 122 | Globin | Disease-causing (★★) |
| HBB H64N | 64 | Globin | Disease-causing (★★) |
| HBB L69F | 69 | Globin | Disease-causing (★★) |
| HBB N109K | 109 | Globin | Disease-causing (★★) |
| HBB M1T | 1 | Disease-causing (★★) | |
| HBB A54T | 54 | Globin | Disease-causing (★) |
| HBB L107Q | 107 | Globin | Disease-causing (★) |
| HBB V68E | 68 | Globin | Disease-causing |
Which prediction tools work for METHEMOGLOBINEMIA, BETA TYPE
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 80 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 74 out of 100
- ESM1b (LLR): 63 out of 100
Same protein, different disease
- Erythrocytosis, familial, 6 is also caused by HBB variants; they fall mostly in different places as the METHEMOGLOBINEMIA, BETA TYPE variants (31 disease-causing).
- Beta thalassemia is also caused by HBB variants; they fall mostly in different places as the METHEMOGLOBINEMIA, BETA TYPE variants (21 disease-causing).
- Beta-thalassemia HBB/LCRB is also caused by HBB variants; they fall mostly in different places as the METHEMOGLOBINEMIA, BETA TYPE variants (18 disease-causing).
- Heinz body anemia is also caused by HBB variants; they fall mostly in different places as the METHEMOGLOBINEMIA, BETA TYPE variants (12 disease-causing).
- Hemoglobinopathy is also caused by HBB variants; they fall partly in the same places as the METHEMOGLOBINEMIA, BETA TYPE variants (12 disease-causing).
Diseases related to METHEMOGLOBINEMIA, BETA TYPE
- Erythrocytosis, familial, 6, also linked to HBB
- Malaria, also linked to HBB
- Beta thalassemia, also linked to HBB
- Heinz body anemia, also linked to HBB
- Atypical hemolytic-uremic syndrome, also linked to HBB
- Beta-thalassemia HBB/LCRB, also linked to HBB
- Hemoglobinopathy, also linked to HBB
- Dominant beta-thalassemia, also linked to HBB
- Alpha Thalassemia, also linked to HBB
- Hemolytic anemia, also linked to HBB
Frequently asked questions
Which genes are linked to METHEMOGLOBINEMIA, BETA TYPE?
In CATVariant, METHEMOGLOBINEMIA, BETA TYPE is linked to 1 analyzed protein: HBB (Hemoglobin subunit beta).
How many genetic variants are linked to METHEMOGLOBINEMIA, BETA TYPE?
15 variants: 10 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in METHEMOGLOBINEMIA, BETA TYPE 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 METHEMOGLOBINEMIA, BETA TYPE?
Among tools not trained on clinical labels, AlphaMissense separates this disease's known disease-causing variants from harmless ones best (AUROC 0.74, based on 10 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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