Nucleotide Abnormalities of JAK3 Gene in Autosomal SCID Patients
| Patient Allele . | Transcript Abnormality* . | Genomic Abnormality* . | Protein Abnormality . |
|---|---|---|---|
| L.E. 1 | nt 1537: A to G transition | Same | Missense mutation |
| L.E. 2 | Deletion of exons 10, 11, 12 | Genomic deletion | Internally deleted protein |
| L.P. 1 | nt 1428: C to T transition | Same | C-terminally truncated protein |
| L.P. 2 | nt 2370: T to C transition | Same | Missense mutation C579R |
| N.K. | Deletion of 21 nt (1861-1881) | nt 1862: C to T transition (new splice site in exon 12) | Internally deleted protein |
| V.L. | Deletion of 5 nt (1537-1541) | A to G transition at the acceptor splice site of intron 9 | C-terminally truncated protein |
| Patient Allele . | Transcript Abnormality* . | Genomic Abnormality* . | Protein Abnormality . |
|---|---|---|---|
| L.E. 1 | nt 1537: A to G transition | Same | Missense mutation |
| L.E. 2 | Deletion of exons 10, 11, 12 | Genomic deletion | Internally deleted protein |
| L.P. 1 | nt 1428: C to T transition | Same | C-terminally truncated protein |
| L.P. 2 | nt 2370: T to C transition | Same | Missense mutation C579R |
| N.K. | Deletion of 21 nt (1861-1881) | nt 1862: C to T transition (new splice site in exon 12) | Internally deleted protein |
| V.L. | Deletion of 5 nt (1537-1541) | A to G transition at the acceptor splice site of intron 9 | C-terminally truncated protein |
Nucleotide numbers refer to the published cDNA sequence (a.n. U09607).