Table 2.
Pathogenic PIK3R1 allelic variants in individuals with SHORT syndrome
| 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 |