DCTN1 p.Ala1099Phe
c.3295_3296delinsTT · VCV3362706
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Perry syndrome
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 12 | GERP 2, phastCons 1 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 3,650 bp · p 0.48 · regional, not allelic |
Variant & gene context
- Gene
- DCTN1
- Protein
- p.Ala1099Phe
- Coding
- c.3295_3296delinsTT
- MANE Select
- NM_004082
- Type
- Indel
- Location
- chr2:74363343 (GRCh38)
- Gene constraint
- LOEUF 0.448 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.43 · 13 PDB
- Residue 1099
- the 'interaction with hps6' region; an α-helix
Disease context
Perry syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Perry syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- DCTN1 p.Ala1099Val Uncertain significance ★★ ⚠ same residue
- DCTN1 p.Ala1099Ser Uncertain significance ★ ⚠ same residue
- DCTN1 p.Ala1099= Likely benign ★ same residue
- DCTN1 p.Gly48Ile Uncertain significance ★ same condition
- DCTN1 c.279+1G>T Pathogenic/Likely pathogenic ★★ same condition
- DCTN1 p.Gln93His Pathogenic/Likely pathogenic ★★ same condition
- DCTN1 p.Gly71Glu Pathogenic ★★ same condition
- DCTN1 p.Tyr78His 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/dctn1-p-ala1099phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown