SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
Table 2
Bioinformatic analysis of novel SIAE genetic variants in patients with autoimmune juvenile idiopathic arthritis.
Genotypesa (allelic frequency)b
Number
Location
DNA numbering
cDNA numbering
Amino acid substitution
PolyPhen-2
(score, sensitivity, specificity)
SIFT
(score)
PROVEAN (score)
Mutation taster (probability)
oJIA
pJIA
sJIA
Controls
1
Exon 8
g.41498A>C
c.1028A>C
Q343P
Probably damaging (1.000, 0.00, 1.00)
Damaging (0.00)
Deleterious (−5.483)
Disease causing (0.999)
0/1/46 (0.011)
0/0/11 (0.000)
0/0/11 (0.000)
0/0/117 (0.000)
2
Intron 9
g.42795T>C
c.1320+33T>C
—
N/A
N/A
N/A
Polymorphism (0.999)
0/1/46 (0.011)
0/0/11 (0.000)
0/0/11 (0.000)
0/0/117 (0.000)
3
Exon 10
g.44266C>A
c.1485C>A
Y495X
N/A
N/A
Deleterious (−7.200)
Disease causing (0.999)
0/0/47 (0.000)
0/1/10 (0.045)
0/0/11 (0.000)
0/0/117 (0.000)
aGenotype: homozygous/heterozygous/wild type. bAllele frequency of all SIAE rare defects (in total) in patients with autoimmune JIA: 0.009. The numbering of cDNA and amino acids corresponds to SIAE transcript: ENST00000263593.7.
