IDUA p.Pro548fs
c.1641dup · VCV4818934
Likely pathogenic
Expert panel
Classification
Likely pathogenic
ClinVar
Review
Expert panel ★★★☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
mucopolysaccharidosis type 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 11 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP -1.9, phastCons 0.52 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- IDUA
- Protein
- p.Pro548fs
- Coding
- c.1641dup
- MANE Select
- NM_000203
- Type
- Duplication
- Location
- chr4:1003460 (GRCh38)
- Gene constraint
- LOEUF 1.344 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.12 · 11 PDB
- Residue 548
- a disulfide bond
Disease context
mucopolysaccharidosis type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Mucopolysaccharidosis type 1 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- IDUA p.Pro548= Likely benign ★ same residue
- IDUA p.Arg383fs Pathogenic ★★★ same condition
- IDUA p.Glu207fs Pathogenic ★★★ same condition
- IDUA p.Ile295fs Pathogenic ★★★ same condition
- IDUA p.Tyr296_Asp298dup Likely pathogenic ★★★ same condition
- IDUA c.1190-10dup Benign ★★★ same condition
- IDUA p.Arg516fs Pathogenic ★★ same condition
- IDUA p.Asn181fs 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/idua-p-pro548fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown