SLC35A2-congenital disorder of glycosylation: genes and variants
SLC35A2-congenital disorder of glycosylation is linked to 1 analyzed protein (SLC35A2). 12 DNA variants are known to cause it; 84 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 SLC35A2-congenital disorder of glycosylation
SLC35A2: UDP-galactose translocator
It supplies UDP-galactose to the Golgi lumen for glycosylation of proteins and lipids. Germline loss-of-function variants cause a congenital disorder of glycosylation, while somatic mosaic brain variants are associated with cortical malformations and epilepsy.
12 disease-causing and 84 uncertain variants in SLC35A2 are linked to SLC35A2-congenital disorder of glycosylation.
Known disease-causing variants in SLC35A2-congenital disorder of glycosylation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC35A2 M1V | 1 | Disease-causing (★★) | |
| SLC35A2 G282R | 282 | Transmembrane | Disease-causing (★★) |
| SLC35A2 M1K | 1 | Disease-causing (★) | |
| SLC35A2 M1L | 1 | Disease-causing (★) | |
| SLC35A2 L43P | 43 | Transmembrane | Disease-causing (★) |
| SLC35A2 C82F | 82 | Transmembrane | Disease-causing (★) |
| SLC35A2 Y267C | 267 | Disease-causing (★) | |
| SLC35A2 T268I | 268 | Disease-causing (★) | |
| SLC35A2 L330P | 330 | Transmembrane | Disease-causing (★) |
| SLC35A2 L172P | 172 | Transmembrane | Disease-causing (★) |
| SLC35A2 S308F | 308 | Disease-causing (★) | |
| SLC35A2 K78R | 78 | Transmembrane | Disease-causing |
Which prediction tools work for SLC35A2-congenital disorder of glycosylation
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- SIFT: 98 out of 100
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to SLC35A2-congenital disorder of glycosylation
- Congenital disorder of glycosylation, type IIw, also linked to SLC35A2
Frequently asked questions
Which genes are linked to SLC35A2-congenital disorder of glycosylation?
In CATVariant, SLC35A2-congenital disorder of glycosylation is linked to 1 analyzed protein: SLC35A2 (UDP-galactose translocator).
How many genetic variants are linked to SLC35A2-congenital disorder of glycosylation?
134 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 84 are of uncertain significance or have conflicting reports.
Which uncertain variants in SLC35A2-congenital disorder of glycosylation 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 SLC35A2-congenital disorder of glycosylation?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.98, based on 11 disease-causing and 27 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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