Southeast Asian ovalocytosis: genes and variants
Southeast Asian ovalocytosis is linked to 1 analyzed protein (SLC4A1). 2 DNA variants are known to cause it; 21 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 Southeast Asian ovalocytosis
SLC4A1: Band 3 anion transport protein
In red blood cells it exchanges chloride and bicarbonate to support carbon-dioxide transport, while in renal intercalated cells it is required for acid-base regulation. Pathogenic variants can cause hereditary spherocytosis or distal renal tubular acidosis depending on the affected function.
2 disease-causing and 21 uncertain variants in SLC4A1 are linked to Southeast Asian ovalocytosis.
Known disease-causing variants in Southeast Asian ovalocytosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC4A1 G609R | 609 | Transmembrane | Disease-causing (★★) |
| SLC4A1 M909T | 909 | Cytoplasmic | Disease-causing (★★) |
Same protein, different disease
- Hereditary spherocytosis is also caused by SLC4A1 variants; they fall mostly in different places as the Southeast Asian ovalocytosis variants (13 disease-causing).
- Autosomal dominant distal renal tubular acidosis is also caused by SLC4A1 variants; they fall mostly in different places as the Southeast Asian ovalocytosis variants (11 disease-causing).
- Cryohydrocytosis is also caused by SLC4A1 variants; they fall mostly in different places as the Southeast Asian ovalocytosis variants (9 disease-causing).
Diseases related to Southeast Asian ovalocytosis
- Hereditary spherocytosis, also linked to SLC4A1
- Renal tubulopathies, also linked to SLC4A1
- Autosomal dominant distal renal tubular acidosis, also linked to SLC4A1
- Cryohydrocytosis, also linked to SLC4A1
- Hemolytic anemia, also linked to SLC4A1
- BLOOD GROUP, WALDNER, also linked to SLC4A1
- BLOOD GROUP--SWANN SYSTEM, also linked to SLC4A1
- Renal tubular acidosis, distal, 4, with hemolytic anemia, also linked to SLC4A1
Frequently asked questions
Which genes are linked to Southeast Asian ovalocytosis?
In CATVariant, Southeast Asian ovalocytosis is linked to 1 analyzed protein: SLC4A1 (Band 3 anion transport protein).
How many genetic variants are linked to Southeast Asian ovalocytosis?
33 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 21 are of uncertain significance or have conflicting reports.
Which uncertain variants in Southeast Asian ovalocytosis 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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