AGA p.Thr149Ser
c.446_447delinsGC · VCV4713690
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
aspartylglucosaminuria
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.71 | GERP -0.89 |
| Regional constraint | o/e 1.02 | unconstrained · MANE · 11 kb · p 0.64 · regional, not allelic |
Variant & gene context
- Gene
- AGA
- Protein
- p.Thr149Ser
- Coding
- c.446_447delinsGC
- MANE Select
- NM_000027
- Type
- Indel
- Location
- chr4:177438805 (GRCh38)
- Gene constraint
- LOEUF 0.938 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.41 · 2 PDB
- Residue 149
- a UniProt-annotated variant site (in); an α-helix
Disease context
aspartylglucosaminuria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Aspartylglucosaminuria (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (Australia)
Similar variants
- AGA p.Val235fs Likely pathogenic ★ same condition
- AGA c.281+12_281+13delinsAG Uncertain significance ★ same condition
- AGA p.Thr149= Likely benign ★ same residue
- AGA c.127+1G>A Likely pathogenic ★★ same condition
- AGA c.127+1G>T Likely pathogenic ★★ same condition
- AGA c.128-2A>G Pathogenic ★★ same condition
- AGA c.281+1G>T Likely pathogenic ★★ same condition
- AGA c.395-8A>G 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/aga-p-thr149ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown