Patient ID | Tripeptidyl Peptidase-I activityb (nmol/hr./mg protein) | Molecular analysis | Allele Frequency | dbSNP reference sequence | Reference | ||
---|---|---|---|---|---|---|---|
Variant location (TPP1 genec) | Zygosity | 1000 Genomes | ExAC | ||||
P13 | 10.2 | Ex8:c.1033A>C/p.M345L | Hetz | 0.0030 | 0.001796 | rs141482368 | [22] |
P14 | 4.5 | Ex8:c.1015C>T/p.R339W | Hom | NR | 0.00001648 | rs750428882 | [23] |
P15 | 4.9 | Ex8:c.1016G>A/p.R339Q | Hom | NR | 0.000008241 | rs765380155 | [2] |
P16 | 11.9 | Ex12:c.1546_1547delTT/p.F516* | Hom | NR | NR | – | [24] |
P17 | 5.4 | Ex6:c.616C>T/p.R206C | Hom | NR | 0.00001649 | rs28940573 | [25] |
P18* | 8.2 | ||||||
P19 | 4.7 | ||||||
P20 | 2.9 | ||||||
P21a | 0.0 | ||||||
P22a | 9.7 | Ex6:c.622C>T/p.R208* | Hom | NR | 0.0002 | rs119455955 | [26] |
P23 | 6.5 | Ex7:c.857A>G/p.N286S | Com Hetz | NR | NR | rs119455958 | [27] |
Ex3:c.184delT/p.S62Rfs*19 | NR | NR | NR | In this study | |||
P24 | 9.1 | Ex5:c.456G>C/p.R152S | Hom | NR | NR | rs869025274 | In this study |
P25a | 0.0 | Ex11:c.1376A>C/p.Y459S | Hom | NR | NR | rs864309505 | In this study |
P26 | 4.6 | ||||||
P27a | 0.3 | Ex5:c.455_488del/p.S153Pfs*19 | Hom | NR | NR | NR | In this study |
P28a | 0.0 | Ex5:c.471C>A/p.Y157* | Hom | NR | NR | rs553522118 | In this study |
P29 | 9.2 | Ex7:c.689_689delT/p.F230Sfs*28 | Com Hetz | NR | NR | NR | In this study |
Ex12:c.1449_1450insG/p.I484Dfs*7 | NR | NR | NR | In this study | |||
P30a | 0.4 | In4:g.2023_2024insT | Hom | NR | NR | NR | In this study |
P31a | 0.0 | ||||||
P32 | 3.5 | Not found | – | – | – | – | – |
P33 | 5.6 | ||||||
P34 | 8.2 |