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Table 1 Pathogenic variants in patients with DADA2 from PUMCH

From: Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China

   P1 P1 P2 P3 P3 P4 P4 P5 P5
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.R131Sfsb52 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
  1. N/A, not available