NEDAMSSFamily-led research and information on NEDAMSS / IRF2BPL syndrome

My mutation

My mutation

Enter an IRF2BPL result to see where it sits on the protein, what public records say, and whether it appears in curated research. This is an educational research summary, not medical interpretation or diagnosis.

Data last updated: May 8, 2026

After analysis, a valid mutation is saved locally on this device for the My mutation and research database pages.

Normalized to NM_024496.4 / NP_078772.1

NM_024496.4(IRF2BPL):c.346C>T (p.Gln116Ter)

Truncating / nonsenseLikely pathogenicNot in curated research set
Predicted protein effect
p.Gln116Ter
Protein shorthand
Q116*
Location
Residue 116 of 796
Region
Low-complexity region 1 (Residues 76-173)
Show similar mutations

Low-complexity region 1

A flexible early region that is rich in simple amino-acid patterns. In the Dell'Oca model, this region helps explain how IRF2BPL can form protein droplets in cells.

Public records

ClinVar Variation ID 1801711

criteria provided, single submitter; 1 submitter in this snapshot.

Open ClinVar

Research papers mentioning this mutation

No curated paper in this snapshot mentions this exact mutation yet. The research database may still include nearby variants or related domain studies.

3D protein model

Mol*

Loading Mol* 3D model...

The model stays fitted to residues 1-129. The selected residue is highlighted without automatically zooming. For truncating variants, downstream protein sequence beyond the residue may be lost, but this first structural snapshot covers only the modeled region.

The bundled model covers residues 1-129 only. Residue positions outside this range are shown on the sequence track but cannot be highlighted inside the PDB-derived structure. Predicted structure confidence and biological interpretation are limited.

Protein map

Where this mutation sits

The chart compares the entered result with pathogenic-focus ClinVar records and curated literature variants across the 796 amino acids of IRF2BPL.

Open research database

Protein region guide

The colored bar shows broad regions of IRF2BPL from the Dell'Oca 2026 research model. Hover or tap a region for a plain-language note.

Source paper

Low-complexity region 1

Residues 76-173

A flexible early region that is rich in simple amino-acid patterns. In the Dell'Oca model, this region helps explain how IRF2BPL can form protein droplets in cells.

Reported features from public cases in this region

Reported features from public cases in this region often include developmental delay or regression, epileptic spasms or other seizures, tone differences such as hypotonia or hypertonia, and feeding or swallowing concerns. Early truncating variants near the polyQ tract may be associated with increased severity, but this is not a child-specific prediction.

This is a literature summary by region, not a prediction of what any individual child's phenotype will be.

ClinVar classifications can change as submissions are updated. Literature notes are manually curated from public papers and may not capture every reported individual. Use the source links and a qualified clinician or genetics professional for case-specific interpretation.