Table 1.
Polymorphisms, rare silent variants, and rare variants of uncertain pathogenicity
| Amino acid change | Sequence variation | Exon | No. of respective alleles (allele frequency)
|
|
|---|---|---|---|---|
| Patients | Controls | |||
| Phe16Phe | TTT vs. TTC | 2 | 414:0 | 189:1 |
| Leu133Leu | CTT vs. CTC | 5 | 413:1 | 190:0 |
| Tyr144Tyr | TAC vs. TAT | 5 | 413:1 | 190:0 |
| Asn205Ser | AAC vs. AGC | 6 | 414:0 | 189:1 |
| Lys294Thr | AAA vs. ACA | 9 | 413:1 | 192:0 |
| Val326Val | GTG vs. GTT | 9 | 413:1 | 192:0 |
| Glu352Glu | GAG vs. GAA | 10 | 352:62 (0.15) | 163:27 (0.14) |
| Thr385Thr | ACG vs. ACA | 11 | 413:1 | 192:0 |
| Val407Ala | GTT vs. GCT | 11 | 413:1 | 192:0 |
| Ala434Val | GCG vs. GTG | 12 | 413:1 | 192:0 |
| Ala434Ala | GCG vs. GCC | 12 | 413:1 | 192:0 |
| Intron 12 | IVS12+20 A vs. C | IVS12 | 401:13 (0.031) | 181:8 (0.042) |