Skip to main content

Table 2 Pathogenic PIK3R1 allelic variants in individuals with SHORT syndrome

From: SHORT syndrome in a two-year-old girl – case report

 

DNA nucleotide change

Protein amino acid change

References

1

c.1465G>A

p.Glu489Lys

[11, 24]

2

c.1615_1617delATT

p.Ile539del

[11, 24]

3

c.1892G>A

p.Arg631Gln

[24]

4

c.1906_1907delAA

p.Asn636ProfsTer17

[24]

5

c.1906_1907insC

p.Asn636Thrfs*18

[1]

6

c.1929_1933delTGGCA

p.Asp643Aspfs*8

[8]

7

c.1943dupT

p.Arg649ProfsTer5

[11, 24]

8

c.1945C>T

p.Arg649Trp

[1, 3, 8, 11, 12, 24]

9

c.1971T>G

p.Tyr657Ter

[11, 24]

10

c.1956dupT

p.Lys653*

newly described