Table 1.
Ethnicity and VPS33B mutation data in ARC patients
| Patient | Ethnicity | Nucleotide alteration | Coding-sequence alteration | Exon | Status |
|---|---|---|---|---|---|
| Pt 1 | Korean | NI | |||
| Pt 2 | Korean |
c.403+2 T>A c.1509_1510insG |
p.Lys504GlufsX23 | 6 20 |
Het Het |
| Pt 3 | Korean | c.740_741delAT | p.Tyr247X | 10 | Het |
| Pt 4 | Korean | c.403+2 T>A | 6 | Hom | |
| Pt 5 | Korean | c.403+2 T>A | 6 | Het | |
| Pt 6 | Korean |
c.403+2 T>A c.728C>T |
p.Ser243Phe | 6 10 |
Het Het |
| Pt 7 | Korean | c.403+2 T>A | 6 | Hom | |
| Pt 8 | Korean |
c.403+2 T>A c.1803_1804insA |
p.Val602SerfsX13 | 6 23 |
Het Het |
| Pt 9 | Korean | c.403+2 T>A | 6 | Hom | |
| Pt 10 | Polish | c.1235_1236delCCinsG | p.Pro12ArgfsX7 | 17 | Hom |
| Pt 11 | Polish | c.1235_1236delCCinsG | p.Pro12ArgfsX7 | 17 | Hom |
| Pt 12 | Polish | c.1576_1577insT | p.Glu525ValfsX13 | 21 | Hom |
| Pt 13* | Polish | c.1594C>T | p.Arg532X | 21 | Het |
| Pt 14 | Turkish | c.352C>T | pGln118X | 5 | Hom |
| Pt 15* | Thai | NI | |||
| Pt 16* | Portuguese | c.853-2 A>G/ c.1519 C>T |
p.Arg507X | 12-2 21 |
Het Het |
| Pt 17* | Israeli Arab | NI | |||
| Pt 18* | Pakistani | c.1312C>T | p.Arg438X | 18 | Hom |
| Pt 19* | Pakistani | c.1594 C>T | p.Arg532X | 21 | Hom |
| Pt 20* | Swedish | c.498+1 G>A | 7+1 | Het | |
| Pt 21 | Afro- Caribbean |
NI | |||
| Pt 22 | Turkish | NI |
Het - heterozygous, Hom - homozygous. NI- DNA alterations not identified. Novel mutations are indicated in boldface.
*
patients whose fibroblasts were used for expression analysis and who were reported previously by Gissen et al, 2006. Mutation nomenclature is based on GenBank entry NM_018668.3, with +1 corresponding to the A of the translation initiation codon ATG in the cDNA nomenclature, according to HGVS nomenclature guidelines (http://www.hgvs.org/mutnomen) (den Dunnen and Antonarakis, 2000).