IRF2BPL research database

Verified cohort

IRF2BPL research database

Explore the verified primary patient rows extracted from IRF2BPL cohort papers. The map, filters, metrics, and compact rows all use the same selected cohort row set.

Data last updated: May 22, 2026

Verified cohort

Verified cohort dashboard

65 verified primary patient rows

Papers

Mutation class

patients in selection

unique cohort variants

mutation classes in view

rows with age (16 unavailable)

30 rows in view

Residues 76-173; all papers; Nonsense

All verified papers

Selected variant

c.346C>T: no verified cohort row matches this query.

Active residue range

Residues 76-173

Start residueEnd residue

Residues 76-173

Edit the start and end residue fields above to refine the mobile selection.

ClinVar context

154 ClinVar records in residues 76-173

Context only; cohort metrics stay verified-row based.

154 ClinVar records in residues 76-173

76125173

19 ClinVar records

residues 161-165

76125173

IRF2BPL domain architecture

Dell'Oca et al. classify IRF2BPL into conserved ZnF and RING domains, three low-complexity regions, and a conserved higher-complexity domain mapped to NP_078772.1 residue coordinates. Select a region to filter the database to that range.

Source paper

LCR1 / polyA-polyQ-rich low-complexity region

Residues 76-173

First central low-complexity region, enriched for alanine and glutamine and containing polyA/polyQ repeats.

A/Q-rich; includes the CC1 coiled-coil-prone segment described in the Dell'Oca analysis.

ZnF plus LCR1 drive IRF2BPL LLPS in the paper's cellular assays; variants here are shown as part of the phase-separation-relevant region.

Select this region to filter to residues 76-173.

Domain boundaries and interpretation are taken from the Dell'Oca et al. 2026 domain model and supplementary domain-composition analysis. They are shown for research context and are not a clinical classification of any individual variant.

Mutation classes

Nonsense30 · 100%

Gender

M27% (8)

F20% (6)

Unknown/NA53% (16)

Age

<1y0% (0)

1-5y0% (0)

6-12y21% (3)

13-17y7% (1)

18y+71% (10)

Age unavailable53% of all rows (16)

Clinical metrics

Yes/No/NA percentages for 30 selected rows

Seizures

30 rows

Yes 43% (13)No 3% (1)NA 53% (16)

Developmental delay/regression

30 rows

Yes 63% (19)No 0% (0)NA 37% (11)

Dystonia

30 rows

Yes 37% (11)No 40% (12)NA 23% (7)

Ataxia

30 rows

Yes 67% (20)No 23% (7)NA 10% (3)

Spasticity

30 rows

Yes 17% (5)No 20% (6)NA 63% (19)

Hypotonia

30 rows

Yes 20% (6)No 40% (12)NA 40% (12)

Dysarthria

30 rows

Yes 60% (18)No 23% (7)NA 17% (5)

Dysphagia

30 rows

Yes 17% (5)No 37% (11)NA 47% (14)

Choreoathetosis

30 rows

Yes 13% (4)No 40% (12)NA 47% (14)

Hyperreflexia

30 rows

Yes 53% (16)No 17% (5)NA 30% (9)

EEG abnormality

30 rows

Yes 40% (12)No 0% (0)NA 60% (18)

Brain MRI abnormality

30 rows

Yes 33% (10)No 17% (5)NA 50% (15)

Brain atrophy

30 rows

Yes 27% (8)No 17% (5)NA 57% (17)

Patient rows

Compact verified rows; expand a row for source clinical details

Marcogliese-S01

Marcogliese et al. 2018

Residue 172

Variant

c.514G>T; c.584G>T · p.Glu172*; p.Gly195Val

Class

Nonsense

Sex / age

Male · 7 years

Marcogliese-S04

Marcogliese et al. 2018

Residue 127

Variant

c.379C>T · p.Gln127*

Class

Nonsense

Sex / age

Female · 16 years

Marcogliese-S05

Marcogliese et al. 2018

Residue 126

Variant

c.376C>T · p.Gln126*

Class

Nonsense

Sex / age

Male · 43 years

Tran-P01

Tran et al. 2018

Residue 173

Variant

c.519C>G · p.Tyr173Ter

Class

Nonsense

Sex / age

Male · 10.5 years

Tran-P02

Tran et al. 2018

Residue 121

Variant

c.361C>T · p.Gln121Ter

Class

Nonsense

Sex / age

Female · 27 years

Tran-P03

Tran et al. 2018

Residue 126

Variant

c.376C>T · p.Gln126Ter

Class

Nonsense

Sex / age

Male · 23 years

Tran-P04

Tran et al. 2018

Residue 166

Variant

c.496C>T · p.Glu166Ter

Class

Nonsense

Sex / age

Female · 48 years

Tran-P05

Tran et al. 2018

Residue 173

Variant

c.519C>G · p.Tyr173Ter

Class

Nonsense

Sex / age

Male · 8 years

Ganos-P01

Ganos et al. 2019

Residue 119

Variant

c.355C>T · p.Gln119*

Class

Nonsense

Sex / age

Female · 61 years

Ganos-P02

Ganos et al. 2019

Residue 119

Variant

c.355C>T · p.Gln119*

Class

Nonsense

Sex / age

Male · 27 years

Gardella-P01

Gardella et al. 2023

Residue 124

Variant

c.370C>T · p.Gln124*

Class

Nonsense

Sex / age

Male · 40 years

Gardella-P02

Gardella et al. 2023

Residue 122

Variant

c.364C>T · p.Gln122*

Class

Nonsense

Sex / age

Female · 28 years

Gardella-P03

Gardella et al. 2023

Residue 122

Variant

c.364C>T · p.Gln122*

Class

Nonsense

Sex / age

Male · 37 years

SAL-394_004

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_005

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_010

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_012

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_013

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_021

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_033

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_034

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_040

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_035

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_044

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_045

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_047

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_048

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_049

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

SAL-394_050

Heide et al. 2023

Residue 117

Variant

c.349C>T · p.Gln117Ter

Class

Nonsense

Sex / age

Age not reported

Chen-P01

Chen et al. 2024

Residue 127

Variant

c.379C>T · p.Gln127Ter

Class

Nonsense

Sex / age

Female · 18 years

Patient	Paper	Position	cDNA / protein	Class	Sex / age
Marcogliese-S01	Marcogliese et al. 2018	172	c.514G>T; c.584G>Tp.Glu172*; p.Gly195Val	Nonsense	Male · 7 years
Marcogliese-S04	Marcogliese et al. 2018	127	c.379C>Tp.Gln127*	Nonsense	Female · 16 years
Marcogliese-S05	Marcogliese et al. 2018	126	c.376C>Tp.Gln126*	Nonsense	Male · 43 years
Tran-P01	Tran et al. 2018	173	c.519C>Gp.Tyr173Ter	Nonsense	Male · 10.5 years
Tran-P02	Tran et al. 2018	121	c.361C>Tp.Gln121Ter	Nonsense	Female · 27 years
Tran-P03	Tran et al. 2018	126	c.376C>Tp.Gln126Ter	Nonsense	Male · 23 years
Tran-P04	Tran et al. 2018	166	c.496C>Tp.Glu166Ter	Nonsense	Female · 48 years
Tran-P05	Tran et al. 2018	173	c.519C>Gp.Tyr173Ter	Nonsense	Male · 8 years
Ganos-P01	Ganos et al. 2019	119	c.355C>Tp.Gln119*	Nonsense	Female · 61 years
Ganos-P02	Ganos et al. 2019	119	c.355C>Tp.Gln119*	Nonsense	Male · 27 years
Gardella-P01	Gardella et al. 2023	124	c.370C>Tp.Gln124*	Nonsense	Male · 40 years
Gardella-P02	Gardella et al. 2023	122	c.364C>Tp.Gln122*	Nonsense	Female · 28 years
Gardella-P03	Gardella et al. 2023	122	c.364C>Tp.Gln122*	Nonsense	Male · 37 years
SAL-394_004	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_005	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_010	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_012	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_013	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_021	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_033	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_034	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_040	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_035	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_044	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_045	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_047	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_048	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_049	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
SAL-394_050	Heide et al. 2023	117	c.349C>Tp.Gln117Ter	Nonsense	Age not reported
Chen-P01	Chen et al. 2024	127	c.379C>Tp.Gln127Ter	Nonsense	Female · 18 years