Patient ID | Palmitoyl protein thioesterase activityb (nmol/hr./mg protein) | Molecular analysis | Allele Frequency | dbSNP reference sequence | Reference | ||
---|---|---|---|---|---|---|---|
Variant location (PPT1 genec) | Zygosity | 1000 Genomes | ExAC | ||||
P1 | 0.0 | Ex6:c.541G>A/p.V181M | Hom | NR | 0.0001648 | rs148412181 | [19] |
P2 | 3.6 | Ex3:c.329A>G/p.N110S | Hom | NR | 0.0001813 | rs142894102 | [20] |
P3 | 3.6 | Ex6:c.558G>A/p.W186 | Com Hetz | NR | 0.000008237 | rs386833656 | [21] |
Ex5:c.532_532delG/p.E178Nfs*13 | NR | NR | rs878853325 | In this study | |||
P4 | 3.1 | Ex7:c.713C>T/p.P238L | Hom | NR | NR | rs878853322 | In this study |
P5a | 0.01 | ||||||
P6 | 0.72 | ||||||
P7 | 1.07 | ||||||
P8 | 7.3 | Ex2:c.133T>C/p.C45R | Hom | NR | NR | rs878853323 | In this study |
P9 | 0.36 | Ex7:c.707T>A/p.V236G | Hom | NR | NR | rs878853324 | In this study |
P10 | 5.2 | Not found | – | – | – | – | – |
P11 | 7.4 | ||||||
P12 | 3.1 |