Polymorphic variants identified in the CAPN3 gene
| Exon | Nucleotide change (cDNA, NM_000070) | Amino acid change (protein, NP_000061) | Reference | Frequency |
|---|---|---|---|---|
| The new variants identified are in bold. An asterisk indicates variations of unclear pathological significance, found only once in patients. | ||||
| 1 | 96T/C | T32T | 47 | 0.12 |
| 2 | 163G/A* | G55R* | ||
| 292G/A* | V98I* | |||
| 318C/T | C106C | 47 | 0.04 | |
| 3 | 477C/T* | Y159Y* | ||
| 495C/T | F165F | 47 | 0.01 | |
| 4 | 498+35G/T | |||
| 499-17G/A | ||||
| 606T/C | S202S | 0.06 | ||
| 5 | 706G/A | A236T | 47 | 0.10 |
| 798T/C | I276I | |||
| 6 | 945+5G/A* | |||
| 945+14C/T | ||||
| 945+56C/T | ||||
| 945+91C/T | ||||
| 7 | 984C/T | C328C | 47 | |
| 10 | 1290A/G | T430T | ||
| 11 | 1524G/A* | E508E | ||
| 1524+81C/T | ||||
| 13 | 1542C/T+ | H514H | ||
| 1668C/T | I556I | 47 | <0.01 | |
| 14 | 1746–64C/T | 0.02 | ||
| 16 | 1914+30G/A | |||
| 18 | 1993–5delCTC* | |||
| 19 | 2115+46G/A | |||
| 22 | 2292C/T | D764D | ||
| 2380+12delA | 47 | 0.10 | ||