Perforin gene mutations found in the family cohort
Patient, perforin allele mutations . | Predicted protein product . |
|---|---|
| Triplet A | |
| 916G > T | Missense mutation |
| 1190 1191 ins TG | Premature stop codon and termination of transcription |
| Triplet B | |
| 916G > T | Missense mutation |
| 1190 1191 ins TG | Premature stop codon and termination of transcription |
| Triplet C | |
| 916G > T | Missense mutation |
| None | Normal protein |
| Mother | |
| None | Normal protein |
| 1190 1191 ins TG | Premature stop codon and termination of transcription |
| Father | |
| 916G > T | Missense mutation |
| None | Normal protein |
Patient, perforin allele mutations . | Predicted protein product . |
|---|---|
| Triplet A | |
| 916G > T | Missense mutation |
| 1190 1191 ins TG | Premature stop codon and termination of transcription |
| Triplet B | |
| 916G > T | Missense mutation |
| 1190 1191 ins TG | Premature stop codon and termination of transcription |
| Triplet C | |
| 916G > T | Missense mutation |
| None | Normal protein |
| Mother | |
| None | Normal protein |
| 1190 1191 ins TG | Premature stop codon and termination of transcription |
| Father | |
| 916G > T | Missense mutation |
| None | Normal protein |
Perforin gene nucleotide mutations detected in the genomic DNA from each subject. Predicted protein product resulting from each perforin gene mutation is described.