Table 2.
Amino acid sequence alignment of the canonical sequence of Fas (UniProtKB, P25445) and sequences from the patients. Stop codon in the sequence of patient 2 is showed.
| Fas | MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCH | 60 |
| Patient_1 | MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCH | 60 |
| Patient_2 | MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCH | 60 |
| Fas | KPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCT | 120 |
| Patient_1 | KPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCT | 120 |
| Patient_2 | KPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCT | 120 |
| Fas | RTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLL | 180 |
| Patient_1 | RTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLL | 180 |
| Patient_2 | RTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLL | 180 |
| Fas | LLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM | 240 |
| Patient_1 | LLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM | 240 |
| Patient_2 | LLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM | 240 |
| Fas | TLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKK | 300 |
| Patient_1 | TLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKK | 300 |
| Patient_2 | TLSQVKGFVStop | 249 |
| Fas | ANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV | 335 |
| Patient_1 | ANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV | 335 |
| Patient_2 | 249 |