Deletions in the Coagulation Factor XIII A-Subunit Gene Causing Factor XIII Deficiency
| Location . | Codon . | Genomic Sequence Change . | Effect on Protein Translation . | Reference . |
|---|---|---|---|---|
| Exon 2 | 8 | GCCTTTGGA to GCCTTGGA (1-bp deletion) | Frameshift | 32 |
| Intron B/exon 3 | 43 | agAGTTT to agTTT (2-bp deletion) | Frameshift | 22 |
| Exon 3 | 82-86 | TTCTATGTGCAGATTGAC to TTGAC (13-bp deletion) | Frameshift | 30 |
| Exon 3 | 96 | GGGA to GTCGTCCA (deletion/insertion) | Frameshift | 26 |
| Flanking exon 5 | — | entire exon 5 deletion | Frameshift | 35 |
| Exon 8 | 344 | GATAATGAT to GATGAT (3-bp deletion) | Inframe deletion of Asn344 | This study |
| Exon 11 | 462-463 | AAATTAATTG to AAATTG (4-bp deletion) | Frameshift | 31 |
| Location . | Codon . | Genomic Sequence Change . | Effect on Protein Translation . | Reference . |
|---|---|---|---|---|
| Exon 2 | 8 | GCCTTTGGA to GCCTTGGA (1-bp deletion) | Frameshift | 32 |
| Intron B/exon 3 | 43 | agAGTTT to agTTT (2-bp deletion) | Frameshift | 22 |
| Exon 3 | 82-86 | TTCTATGTGCAGATTGAC to TTGAC (13-bp deletion) | Frameshift | 30 |
| Exon 3 | 96 | GGGA to GTCGTCCA (deletion/insertion) | Frameshift | 26 |
| Flanking exon 5 | — | entire exon 5 deletion | Frameshift | 35 |
| Exon 8 | 344 | GATAATGAT to GATGAT (3-bp deletion) | Inframe deletion of Asn344 | This study |
| Exon 11 | 462-463 | AAATTAATTG to AAATTG (4-bp deletion) | Frameshift | 31 |