Autosomal dominant distal renal tubular acidosis: genes and variants
Autosomal dominant distal renal tubular acidosis is linked to 1 analyzed protein (SLC4A1). 11 DNA variants are known to cause it; 49 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 Autosomal dominant distal renal tubular acidosis
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.
11 disease-causing and 49 uncertain variants in SLC4A1 are linked to Autosomal dominant distal renal tubular acidosis.
Where Autosomal dominant distal renal tubular acidosis variants cluster
- SLC4A1 Involved in anion transport (positions 559–630): 5 of 11 disease-causing changes, 5.8× more than its size predicts.
Known disease-causing variants in Autosomal dominant distal renal tubular acidosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC4A1 R808H | 808 | Cytoplasmic | Disease-causing (★★) |
| SLC4A1 G701D | 701 | Transmembrane | Disease-causing (★★) |
| SLC4A1 R589H | 589 | Transmembrane | Disease-causing (★★) |
| SLC4A1 R589C | 589 | Transmembrane | Disease-causing (★★) |
| SLC4A1 G609R | 609 | Transmembrane | Disease-causing (★★) |
| SLC4A1 R760Q | 760 | (Microbial infection) 5ABC region | Disease-causing (★★) |
| SLC4A1 V488M | 488 | Transmembrane | Disease-causing (★★) |
| SLC4A1 A858D | 858 | Discontinuously helical | Disease-causing (★★) |
| SLC4A1 M909T | 909 | Cytoplasmic | Disease-causing (★★) |
| SLC4A1 G606R | 606 | Transmembrane | Disease-causing (★) |
| SLC4A1 S613F | 613 | Transmembrane | Disease-causing |
Which prediction tools work for Autosomal dominant distal renal tubular acidosis
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Hereditary spherocytosis is also caused by SLC4A1 variants; they fall partly in the same places as the Autosomal dominant distal renal tubular acidosis variants (13 disease-causing).
- Cryohydrocytosis is also caused by SLC4A1 variants; they fall mostly in different places as the Autosomal dominant distal renal tubular acidosis variants (9 disease-causing).
Diseases related to Autosomal dominant distal renal tubular acidosis
- Hereditary spherocytosis, also linked to SLC4A1
- Renal tubulopathies, also linked to SLC4A1
- Cryohydrocytosis, also linked to SLC4A1
- Southeast Asian ovalocytosis, 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 Autosomal dominant distal renal tubular acidosis?
In CATVariant, Autosomal dominant distal renal tubular acidosis is linked to 1 analyzed protein: SLC4A1 (Band 3 anion transport protein).
How many genetic variants are linked to Autosomal dominant distal renal tubular acidosis?
70 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 49 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant distal renal tubular acidosis 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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