Table 3.
Amino acid sequence alignment of Caspase 10 from the patients and the reported in UniProtKB–Q92851. *, amino acids which mutation has been implicated in ALPS, L285F [17], I406L [18], Y446C [14].
Caspase_10 | MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASD | 60 |
Patient_1 | MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASD | 60 |
Patient_2 | MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASD | 60 |
Caspase_10 | VFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLY | 120 |
Patient_1 | VFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLY | 120 |
Patient_2 | VFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLY | 120 |
Caspase_10 | ELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPK | 180 |
Patient_1 | ELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPK | 180 |
Patient_2 | ELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPK | 180 |
Caspase_10 | LLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN | 240 |
Patient_1 | LLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN | 240 |
Patient_2 | LLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN | 240 |
Caspase_10 | GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDR | 300 |
Patient_1 | GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDR | 300 |
Patient_2 | GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDR | 300 |
* | ||
Caspase_10 | QGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGR | 360 |
Patient_1 | QGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGR | 360 |
Patient_2 | QGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGR | 360 |
Caspase_10 | FGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPE | 420 |
Patient_1 | FGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPE | 420 |
Patient_2 | FGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPE | 420 |
* | ||
Caspase_10 | QAPTSLQDSIPAEADFLLGLATVPGYV | 447 |
Patient_1 | QAPTSLQDSIPAEADFLLGLATVPGYV | 447 |
Patient_2 | QAPTSLQDSIPAEADFLLGLATVPGYV | 447 |
* |