SLC25A38
Chr 3ARsolute carrier family 25 member 38
Also known as: SIDBA2
This mitochondrial glycine transporter imports glycine into the mitochondrial matrix to provide substrate for the first step of heme biosynthesis during erythropoiesis. Biallelic mutations cause autosomal recessive congenital sideroblastic anemia that is pyridoxine-refractory, typically presenting in infancy with severe microcytic anemia and iron overload. The gene shows low constraint against loss-of-function variants in population databases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
283 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 35 | 13 | 9 | 0 | 57 |
Likely Pathogenic | 8 | 3 | 1 | 0 | 12 |
VUS | 1 | 75 | 21 | 3 | 100 |
Likely Benign | 1 | 6 | 32 | 25 | 64 |
Benign | 0 | 0 | 24 | 1 | 25 |
Conflicting | — | 17 | |||
| Total | 45 | 97 | 87 | 29 | 275 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC25A38 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools