Thirty-Four Point Mutations Within Exons in 57 SCID Patients With IL2RG Defects
| IL2RG Exon . | cDNA Mutation . | Protein Mutation . | mRNA Detected* . | γc on Cell Surface by IF† . | Reference‡ . |
|---|---|---|---|---|---|
| 1 | 17G→A [2]ρ | M1I | + | − | |
| 2 | 200T→A | C62•2-154 | − | − | 6 |
| 216G→A | E68K | + | − | 15 | |
| 280A→G | Y89C | + | Trace | 29 | |
| 3 | 355G→A | G114N | + | Trace | 6 |
| 360C→T | Q116• | NA | NA | ||
| 369A→T | K119• | − | − | 5 | |
| 382A→C | H125P | + | Trace | ||
| 387T→A | Y126N | + | + | ||
| 405C→T | Q131• | NA | NA | ||
| 435C→T [2] | Q141• | NA | NA | ||
| 444C→T | Q144• | − | − | 15 | |
| 445A→C | Q144P | + | − | ||
| 4 | 472T→A | I153N | + | + | 6 |
| 499T→A | L162H | NA | NA | 30 | |
| 529T→C | L172P | NA | − | ||
| 529T→A | L172Q | + | − | ||
| 550T→A, 552A→C | L179•, N180H | − | − | ||
| 576C→T | Q188• | − | − | ||
| 581C→A | Y189• | − | − | ||
| 593G→A [2] | W193• | NA | NA | ||
| 5 | 660C→T | Q216• | − | − | |
| 684C→T [4] | R224W | + | − | ||
| 690C→T [5] | R226C | + | Trace | 10, 12, 18 | |
| 691G→A [6] | R226H | + | Trace | 9 | |
| 694T→G | F227C | + | Trace | ||
| 703T→C | L230P | NA | NA | ||
| 708G→A | G232R | NA | NA | ||
| 717C→T | Q235• | − | − | 16, 17 | |
| 736G→T | S241I | NA | NA | 12 | |
| 6 | 823T→G | M270R | + | − | |
| 868G→A [4] | R285Q | + | Trace | 16 | |
| 7 | 879C→T [6] | R289• | + | + | 5, 10 |
| 8 | 978C→T | Q322• | + | + |
| IL2RG Exon . | cDNA Mutation . | Protein Mutation . | mRNA Detected* . | γc on Cell Surface by IF† . | Reference‡ . |
|---|---|---|---|---|---|
| 1 | 17G→A [2]ρ | M1I | + | − | |
| 2 | 200T→A | C62•2-154 | − | − | 6 |
| 216G→A | E68K | + | − | 15 | |
| 280A→G | Y89C | + | Trace | 29 | |
| 3 | 355G→A | G114N | + | Trace | 6 |
| 360C→T | Q116• | NA | NA | ||
| 369A→T | K119• | − | − | 5 | |
| 382A→C | H125P | + | Trace | ||
| 387T→A | Y126N | + | + | ||
| 405C→T | Q131• | NA | NA | ||
| 435C→T [2] | Q141• | NA | NA | ||
| 444C→T | Q144• | − | − | 15 | |
| 445A→C | Q144P | + | − | ||
| 4 | 472T→A | I153N | + | + | 6 |
| 499T→A | L162H | NA | NA | 30 | |
| 529T→C | L172P | NA | − | ||
| 529T→A | L172Q | + | − | ||
| 550T→A, 552A→C | L179•, N180H | − | − | ||
| 576C→T | Q188• | − | − | ||
| 581C→A | Y189• | − | − | ||
| 593G→A [2] | W193• | NA | NA | ||
| 5 | 660C→T | Q216• | − | − | |
| 684C→T [4] | R224W | + | − | ||
| 690C→T [5] | R226C | + | Trace | 10, 12, 18 | |
| 691G→A [6] | R226H | + | Trace | 9 | |
| 694T→G | F227C | + | Trace | ||
| 703T→C | L230P | NA | NA | ||
| 708G→A | G232R | NA | NA | ||
| 717C→T | Q235• | − | − | 16, 17 | |
| 736G→T | S241I | NA | NA | 12 | |
| 6 | 823T→G | M270R | + | − | |
| 868G→A [4] | R285Q | + | Trace | 16 | |
| 7 | 879C→T [6] | R289• | + | + | 5, 10 |
| 8 | 978C→T | Q322• | + | + |
Abbreviation: NA, not available.
By Northern blot.
By cell surface IF staining with TUGh4 monoclonal antibody.
Previous publications, including those by our group, clinical reports and identical mutations found by others.
ρ If multiple cases in our series had the same mutation, the number is shown in brackets.
Solid circle indicates termination codon.