Table 2. SEC63 mutations identified in PCLD patients.
| Position | Nucleotide change | Amino acid change | No. of allelesa | Origin | Reference |
|---|---|---|---|---|---|
| Splice site | |||||
| IVS 1 | c.125-2A>G | p.E42GfsX156 | 0 | (10) | |
| IVS 8 | c.733+1G>A | p.L246KfsX247 | 0 | (10) | |
| IVS 8 | c.733+1G>T | p.L246KfsX247 | 1 | French | This study |
| IVS 11 | c.1053_1054+4delAGgtga | p.R353EfsX355 | 1 | Turkish | This study |
| Insertion/deletion | |||||
| Exon 4 | c.422delT | p.M141SfsX143 | 1 | Dutch | This study |
| Exon 4 | c.441_442insA | p.A148SfsX155 | 0 | (10) | |
| Exon 12 | c.1118_1126del9bp | p.A373G del 3aa | 1 | Dutch | This study |
| Exon 17 | c.1702_1704delGAA | p.E568del | 4 | Dutch | (10) |
| Exon 17 | c.1813_1817delCAAAA | p.N606RfsX607 | 1 | Dutch | This study |
| Exon 19 | c.2006_2007delAT | p.H669RfsX689 | 0 | (10) | |
| Non-sense | |||||
| Exon 2 | c.173G>A | p.W58X | 0 | (10) | |
| Exon 3 | c.292C>T | p.R98X | 1 | Dutch | This study |
| Exon 8 | c.715C>T | p.R239X | 1 | Dutch | This study |
| Exon 10 | c.891T>A | p.Y297X | 0 | (10) | |
| Exon 16 | c.1577C>A | p.S526X | 0 | (13) | |
| Missense | |||||
| Exon 4 | c.359T>Cb | p.I120Tb | 1b | Dutch | This study |
| Exon 5 | c.502G>C | p.D168H | 0 | (13) | |
| Exon 8 | c.649C>T | p.R217C | 1 | Dutch | This study |
| Exon 9 | c.801A>C | p.R267S | 2 | USA | This study |
| Exon 12 | c.1124A>C | p.Q375P | 1 | Dutch | This study |
| Exon 19 | c.1951T>G | p.W651G | 1 | Dutch | This study |
| Total number of mutations found in this study | 17 | ||||
a
Number of alleles found in this study excluding family members.
b
Mutation found transheterozygously with PRKCSH c.1341-2A>G. Mutations identified in this study are depicted in bold face.