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 (18 unavailable)

65 rows in view

Residues 1-796; all papers; all mutation classes

All verified papers

Selected variant

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

Active residue range

Residues 1-796

Start residueEnd residue

Residues 1-796

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

ClinVar context

571 ClinVar records in residues 1-796

Context only; cohort metrics stay verified-row based.

571 ClinVar records in residues 1-796

1399796

71 ClinVar records

residues 103-136

1399796

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

Nonsense36 · 55%

Frameshift15 · 23%

Missense12 · 18%

Deletion3 · 5%

Gender

M34% (22)

F42% (27)

Unknown/NA25% (16)

Age

<1y2% (1)

1-5y36% (17)

6-12y23% (11)

13-17y4% (2)

18y+34% (16)

Age unavailable28% of all rows (18)

Clinical metrics

Yes/No/NA percentages for 65 selected rows

Seizures

65 rows

Yes 58% (38)No 11% (7)NA 31% (20)

Developmental delay/regression

65 rows

Yes 77% (50)No 3% (2)NA 20% (13)

Dystonia

65 rows

Yes 28% (18)No 31% (20)NA 42% (27)

Ataxia

65 rows

Yes 40% (26)No 31% (20)NA 29% (19)

Spasticity

65 rows

Yes 20% (13)No 22% (14)NA 58% (38)

Hypotonia

65 rows

Yes 37% (24)No 28% (18)NA 35% (23)

Dysarthria

65 rows

Yes 38% (25)No 14% (9)NA 48% (31)

Dysphagia

65 rows

Yes 20% (13)No 29% (19)NA 51% (33)

Choreoathetosis

65 rows

Yes 8% (5)No 31% (20)NA 62% (40)

Hyperreflexia

65 rows

Yes 32% (21)No 12% (8)NA 55% (36)

EEG abnormality

65 rows

Yes 48% (31)No 8% (5)NA 45% (29)

Brain MRI abnormality

65 rows

Yes 40% (26)No 32% (21)NA 28% (18)

Brain atrophy

65 rows

Yes 26% (17)No 25% (16)NA 49% (32)

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-S02

Marcogliese et al. 2018

Residue 188

Variant

c.562C>T · p.Arg188*

Class

Nonsense

Sex / age

Female · Deceased at 15 years

Marcogliese-S03

Marcogliese et al. 2018

Residue 188

Variant

c.562C>T · p.Arg188*

Class

Nonsense

Sex / age

Male · 20 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

Marcogliese-S06

Marcogliese et al. 2018

Residue 372

Variant

c.1115C>G · p.Pro372Arg

Class

Missense

Sex / age

Male · 11 years

Marcogliese-S07

Marcogliese et al. 2018

Residue 418

Variant

c.1254G>C · p.Lys418Asn

Class

Missense

Sex / age

Female · 2.5 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

Tran-P06

Tran et al. 2018

Residue 188

Variant

c.562C>T · p.Arg188Ter

Class

Nonsense

Sex / age

Male · 20 years

Tran-P07

Tran et al. 2018

Residue 321

Variant

c.962delC · p.Ala321GlufsTer24

Class

Frameshift

Sex / age

Female · 10.5 years

Tran-P08

Tran et al. 2018

Residue 708

Variant

c.2122delG · p.Ala708ProfsTer59

Class

Frameshift

Sex / age

Male · 3 years

Tran-P09

Tran et al. 2018

Residue 713

Variant

c.2135_2136delGT · p.Leu713SerfsTer56

Class

Frameshift

Sex / age

Male · 6 years

Tran-P10

Tran et al. 2018

Residue 714

Variant

p.Cys714AlafsTer49

Class

Frameshift

Sex / age

Female · 3 years 7 months

Tran-P11

Tran et al. 2018

Residue 718

Variant

p.Cys718AlafsTer49

Class

Frameshift

Sex / age

Female · 2 years 2 months

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

Niu-P01

Niu et al. 2021

Residue 78

Variant

c.232delG · p.V78Sfs*73

Class

Frameshift

Sex / age

Female · 3 years 10 months

Niu-P02

Niu et al. 2021

Residue 82

Variant

c.244del · p.A82Pfs*70

Class

Frameshift

Sex / age

Female · 2 years 6 months

Niu-P03

Niu et al. 2021

Residue 474

Variant

c.1280C>T · p.L474F

Class

Missense

Sex / age

Male · 2 years 3 months

Niu-P04

Niu et al. 2021

Residue 427

Variant

c.1420C>T · p.S427L

Class

Missense

Sex / age

Female · 1 year 6 months

Niu-P05

Niu et al. 2021

Residue 485

Variant

c.1453-c.1455delTTC · p.F485del

Class

Deletion

Sex / age

Female · 1 year

Niu-P06

Niu et al. 2021

Residue 95

Variant

c.283-308del · p.Ala95Thrfs*29

Class

Frameshift

Sex / age

Female · 3 years 2 months

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

Horovitz-P01

Horovitz et al. 2023

Residue 701

Variant

c.2102del · p.Asn701ThrfsTer66

Class

Frameshift

Sex / age

Female · 4 years 3 months

Horovitz-P02

Horovitz et al. 2023

Residue 197

Variant

c.590del · p.Asn197ThrfsTer15

Class

Frameshift

Sex / age

Female · 57 years

Horovitz-P03

Horovitz et al. 2023

Residue 367

Variant

c.1099G>T · p.Glu367Ter

Class

Nonsense

Sex / age

Male · 10 years

Horovitz-P04

Horovitz et al. 2023

Residue 161

Variant

c.474_504del · p.Ala161SerfsTer8

Class

Frameshift

Sex / age

Male · 17 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

Family-II_IIA

Heide et al. 2023

Residue 313

Variant

c.938C>A · p.Ser313Ter

Class

Nonsense

Sex / age

Female · 25 years

Family-II_IIB

Heide et al. 2023

Residue 313

Variant

c.938C>A · p.Ser313Ter

Class

Nonsense

Sex / age

Female · Died at 45 years

Wang-P01

Wang et al. 2024

Residue 391

Variant

c.1171C>T · p.Arg391Cys

Class

Missense

Sex / age

Male · 14 months

Wang-P02

Wang et al. 2024

Residue 92

Variant

c.273_307del · p.Ala92Thrfs*29

Class

Frameshift

Sex / age

Male · 2 years 6 months

Wang-P03

Wang et al. 2024

Residue 386

Variant

c.1157C>T · p.Thr386Met

Class

Missense

Sex / age

Male · 13 months

Chen-P01

Chen et al. 2024

Residue 127

Variant

c.379C>T · p.Gln127Ter

Class

Nonsense

Sex / age

Female · 18 years

Iwama-P01

Iwama et al. 2025

Residue 250

Variant

c.748C>G · p.Leu250Val

Class

Missense

Sex / age

Female · 8 years

Iwama-P02

Iwama et al. 2025

Residue 387

Variant

c.1160C>T · p.Pro387Leu

Class

Missense

Sex / age

Male · 4 years

Iwama-P03

Iwama et al. 2025

Residue 468

Variant

c.1402T>C · p.Ser468Pro

Class

Missense

Sex / age

Female · 10 years

Iwama-P04A

Iwama et al. 2025

Residue 495

Variant

c.1484_1486delinsCGT · p.Leu495_Pro496delinsProSer

Class

Deletion

Sex / age

Female · 11 years

Iwama-P04B

Iwama et al. 2025

Residue 495

Variant

c.1484_1486delinsCGT · p.Leu495_Pro496delinsProSer

Class

Deletion

Sex / age

Female · 11 years

Iwama-P05

Iwama et al. 2025

Residue 496

Variant

c.1487C>T · p.Pro496Leu

Class

Missense

Sex / age

Female · 5 months

Iwama-P06

Iwama et al. 2025

Residue 497

Variant

c.1490A>C · p.Gln497Pro

Class

Missense

Sex / age

Male · 2 years

Iwama-P07

Iwama et al. 2025

Residue 93

Variant

c.276_313del · p.Ala93Thrfs*27

Class

Frameshift

Sex / age

Female · 4 years

Iwama-P08

Iwama et al. 2025

Residue 167

Variant

c.501del · p.Gln167Hisfs*12

Class

Frameshift

Sex / age

Male · 23 years

Iwama-P09

Iwama et al. 2025

Residue 182

Variant

c.546del · p.Ser182Argfs*30

Class

Frameshift

Sex / age

Female · 37 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-S02	Marcogliese et al. 2018	188	c.562C>Tp.Arg188*	Nonsense	Female · Deceased at 15 years
Marcogliese-S03	Marcogliese et al. 2018	188	c.562C>Tp.Arg188*	Nonsense	Male · 20 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
Marcogliese-S06	Marcogliese et al. 2018	372	c.1115C>Gp.Pro372Arg	Missense	Male · 11 years
Marcogliese-S07	Marcogliese et al. 2018	418	c.1254G>Cp.Lys418Asn	Missense	Female · 2.5 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
Tran-P06	Tran et al. 2018	188	c.562C>Tp.Arg188Ter	Nonsense	Male · 20 years
Tran-P07	Tran et al. 2018	321	c.962delCp.Ala321GlufsTer24	Frameshift	Female · 10.5 years
Tran-P08	Tran et al. 2018	708	c.2122delGp.Ala708ProfsTer59	Frameshift	Male · 3 years
Tran-P09	Tran et al. 2018	713	c.2135_2136delGTp.Leu713SerfsTer56	Frameshift	Male · 6 years
Tran-P10	Tran et al. 2018	714	cDNA not reportedp.Cys714AlafsTer49	Frameshift	Female · 3 years 7 months
Tran-P11	Tran et al. 2018	718	cDNA not reportedp.Cys718AlafsTer49	Frameshift	Female · 2 years 2 months
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
Niu-P01	Niu et al. 2021	78	c.232delGp.V78Sfs*73	Frameshift	Female · 3 years 10 months
Niu-P02	Niu et al. 2021	82	c.244delp.A82Pfs*70	Frameshift	Female · 2 years 6 months
Niu-P03	Niu et al. 2021	474	c.1280C>Tp.L474F	Missense	Male · 2 years 3 months
Niu-P04	Niu et al. 2021	427	c.1420C>Tp.S427L	Missense	Female · 1 year 6 months
Niu-P05	Niu et al. 2021	485	c.1453-c.1455delTTCp.F485del	Deletion	Female · 1 year
Niu-P06	Niu et al. 2021	95	c.283-308delp.Ala95Thrfs*29	Frameshift	Female · 3 years 2 months
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
Horovitz-P01	Horovitz et al. 2023	701	c.2102delp.Asn701ThrfsTer66	Frameshift	Female · 4 years 3 months
Horovitz-P02	Horovitz et al. 2023	197	c.590delp.Asn197ThrfsTer15	Frameshift	Female · 57 years
Horovitz-P03	Horovitz et al. 2023	367	c.1099G>Tp.Glu367Ter	Nonsense	Male · 10 years
Horovitz-P04	Horovitz et al. 2023	161	c.474_504delp.Ala161SerfsTer8	Frameshift	Male · 17 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
Family-II_IIA	Heide et al. 2023	313	c.938C>Ap.Ser313Ter	Nonsense	Female · 25 years
Family-II_IIB	Heide et al. 2023	313	c.938C>Ap.Ser313Ter	Nonsense	Female · Died at 45 years
Wang-P01	Wang et al. 2024	391	c.1171C>Tp.Arg391Cys	Missense	Male · 14 months
Wang-P02	Wang et al. 2024	92	c.273_307delp.Ala92Thrfs*29	Frameshift	Male · 2 years 6 months
Wang-P03	Wang et al. 2024	386	c.1157C>Tp.Thr386Met	Missense	Male · 13 months
Chen-P01	Chen et al. 2024	127	c.379C>Tp.Gln127Ter	Nonsense	Female · 18 years
Iwama-P01	Iwama et al. 2025	250	c.748C>Gp.Leu250Val	Missense	Female · 8 years
Iwama-P02	Iwama et al. 2025	387	c.1160C>Tp.Pro387Leu	Missense	Male · 4 years
Iwama-P03	Iwama et al. 2025	468	c.1402T>Cp.Ser468Pro	Missense	Female · 10 years
Iwama-P04A	Iwama et al. 2025	495	c.1484_1486delinsCGTp.Leu495_Pro496delinsProSer	Deletion	Female · 11 years
Iwama-P04B	Iwama et al. 2025	495	c.1484_1486delinsCGTp.Leu495_Pro496delinsProSer	Deletion	Female · 11 years
Iwama-P05	Iwama et al. 2025	496	c.1487C>Tp.Pro496Leu	Missense	Female · 5 months
Iwama-P06	Iwama et al. 2025	497	c.1490A>Cp.Gln497Pro	Missense	Male · 2 years
Iwama-P07	Iwama et al. 2025	93	c.276_313delp.Ala93Thrfs*27	Frameshift	Female · 4 years
Iwama-P08	Iwama et al. 2025	167	c.501delp.Gln167Hisfs*12	Frameshift	Male · 23 years
Iwama-P09	Iwama et al. 2025	182	c.546delp.Ser182Argfs*30	Frameshift	Female · 37 years