DBT p.Glu160fs
c.480del · VCV3655582
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
maple syrup urine disease
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 5 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DBT
- Protein
- p.Glu160fs
- Coding
- c.480del
- MANE Select
- NM_001918
- Type
- Deletion
- Location
- chr1:100218701 (GRCh38)
- Gene constraint
- LOEUF 1.255 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.71 · 5 PDB
- Residue 160
- the 'critical for association with ppm1k' region; the 'disordered' region
Disease context
maple syrup urine disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Maple syrup urine disease (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Worldwide)
Similar variants
- DBT p.Glu160Ala Uncertain significance ★ ⚠ same residue
- DBT p.Glu160= Likely benign ★ same residue
- DBT c.434-15_434-4del Pathogenic/Likely pathogenic ★★ same condition
- DBT p.Cys26fs Pathogenic ★★ same condition
- DBT p.Phe276fs Pathogenic/Likely pathogenic ★★ same condition
- DBT p.Thr153fs Pathogenic/Likely pathogenic ★★ same condition
- DBT p.Thr388_Thr389insTer Likely pathogenic ★★ same condition
- DBT p.Thr91fs 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/dbt-p-glu160fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown