Frequency of the mutations studied in the three clinical types of Gaucher’s disease
| Unknown | N370S | L444P | R463C | IVS2+1 | D409H | N462K | c1263del | RecNciI | RecA456P | c1263del+RecTL | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Jewish alleles | |||||||||||
| Type I | 6 (75) | 1 (12.5) | 1 (12.5) | ||||||||
| Non-Jewish alleles, British/Irish | |||||||||||
| Type I | 6 (11) | 15 (29) | 13 (25) | 11 (21) | 1 (2) | 1 (2) | 1 (2) | 3 (6) | 1 (2) | ||
| Type II | 11 (46) | 10 (42) | 1 (4) | 1 (4) | 1 (4) | ||||||
| Type III | 8 (100) | ||||||||||
| Total non-Jewish | 17 (20) | 15 (18) | 31 (37) | 12 (13) | 1 (1.2) | 1 (1.2) | 1 (1.2) | 2 (2.4) | 3 (3.6) | 1 (1.2) | 1 (1.2) |
Numbers in parentheses are percentage of total alleles.