Table 1 New allelic variants found in FKBP12 and FKBP12.6 gene.
From: A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
| Gene | Site |
MAF: cases (n = 186) |
Reference (coding DNA) |
MAF: controls (n = 288) | p value | Risk by bioinformatics analyses |
|---|---|---|---|---|---|---|
| FKBP12 | Promoter | 0.0026 | -40C>A | 0.0052 | 0.25 | - |
| FKBP12 | Promoter | 0.0026 | -7G>A | 0 | - | Low |
| FKBP12 | Exon 1 - 5' UTR | 0.0026 | c.-72C>G | 0 | - | None |
| FKBP12 | Exon 1 - 5' UTR | 0.0026 | c.-65C>G | 0 | - | None |
| FKBP12.6 | Exon 4 - 3'UTR | 0.0026 | c.*26G>A | 0.0017 | 0.55 | - |