Table 1 Pathogenic variants in patients with DADA2 from PUMCH

ADA2 mutation

Nucleotide Changes

c.1232A > G

c.983A > T

c.13G > C

c.878A > C

c.263A > G

c.506G > A

c.393delG

c.254A > T

c.851G > T

Amino Acid Changes

p.Y411C

p.N328I

p.G5R

p.H293P

p.Y88C

p.R169Q

p.R131Sfs^b52

p.N85I

p.G284V

Gene Type

het

het

het

het

het

het

het

het

het

Gene Database

dbsnp147

rs376785840

–

rs202134424

rs2231495

–

rs77563738

–

rs547716532

–

PathSNP

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

MutInNormal

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

1000Genome

N/A

N/A

N/A

chr22–17,669,306

N/A

chr22–17,687,997

N/A

N/A

N/A

MutInDatabase

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

MAF

1000g2015aug_all

–

–

–

–

–

0.0002

–

–

–

ESP6500si

0.0002

–

–

–

–

0.0005

–

–

–

ExAC_ALL

0.0001

–

0.0000

0.00002478

–

0.0005

–

0.0000

–

ExAC_EAS

–

–

–

–

–

–

–

–

–

Patho-genicity speculated by software

SIFT

0.003

0.0

0.002

0.2

0.002

0.0

–

0.001

0.003

SIFT_Predict

Damaging

Damaging

Damaging

Tolerated

Damaging

Damaging

–

Damaging

Damaging

PolyPhen2

0.998

1.0

0.999

0.055

0.999

0.993

–

0.973

1.0

PolyPhen2

Predict

Probably damaging

Probably damaging

Probably damaging

Benign

Probably damaging

Probably damaging

–

Probably damaging

Probably damaging

MutationTaster

0.999

1.000

1

1

1

1

–

1.000

1

MutationTaster Predict

Disease causing

Disease causing

Disease causing

Polymorphism_automatic

Disease causing

Polymorphism

–

Disease causing

Disease causing

GERP++

2.73

2.68

4.76

0.283

3.26

2.21

–

3.54

4.02

GERP++

Predict

Conserved

Conserved

Conserved

Nonconserved

Conserved

Conserved

–

Conserved

Conserved