ARSB p.Leu306fs
c.916_917del · rs1748005026 · VCV2739484
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ARSB
- Protein
- p.Leu306fs
- Coding
- c.916_917del
- MANE Select
- NM_020427 · reported on NM_000046
- dbSNP
- rs1748005026
- Type
- Deletion
- Location
- chr5:78885809 (GRCh38)
- Structure
- AlphaFold pLDDT 84.32 · 2 PDB
Disease context
mucopolysaccharidosis type 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Mucopolysaccharidosis type 6 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- ARSB p.Leu306Ser Uncertain significance ★ ⚠ same residue
- ARSB p.Leu306= Likely benign ★ same residue
- ARSB p.Ala39fs Pathogenic ★★ same condition
- ARSB p.Gly38fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Gly40fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Leu354fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Pro248fs Pathogenic ★★ same condition
- ARSB p.Ser37fs Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/arsb-p-leu306fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown