Table 2.
Mutations identified in Czech LGMD2I, 2D, 2 L, 2B, and 2E probands
| No. | Gene | Mutation (cDNA level) | Mutation (protein level) |
|---|---|---|---|
| 72 - 78 |
FKRP |
c.826C > A/c.826C > A |
p.(Leu276Ile)/p.(Leu276Ile) |
| 79 |
FKRP |
c.826C > A/c.947C > G |
p.(Leu276Ile)/p.(Pro316Arg) |
| 80 |
FKRP |
c.826C > A/c.1076G > C |
p.(Leu276Ile)/p.(Trp359Ser) |
| 81 |
SGCA |
c.229C > T/c.229C > T |
p.(Arg77Cys)/p.(Arg77Cys) |
| 82, 83 |
SGCA |
c.157 + 1G > A/c.850C > T |
splicing/p.(Arg284Cys) |
| 84 |
SGCA |
c.229C > T/c.739G > A |
p.(Arg77Cys)/p.(Val247Met) |
| 85 |
SGCA |
c.290A > G/c.303dupA |
p.(Asp97Gly)/p.(Gln101Glnfs*4) |
| 86 |
SGCA |
c.229C > T/c.308 T > C |
p.(Arg77Cys)/p .(Ile103Thr) |
| 87 |
ANO5 |
c.191dupA/c.966A > T |
p.(Asn64Lysfs*15)/p.(Leu322Phe) |
| 88, 89 |
ANO5 |
c.191dupA/c.2272C > T |
p.(Asn64Lysfs*15)/p.(Arg758Cys) |
| 90 |
DYSF |
c.3832C > T/c.5509G > T |
p.(Gln1278*)/p.(Asp1837Tyr) |
| 91 |
DYSF |
c.509C > A/c.5907G > C/c.610C > T/c.1120G > C/ |
p.(Ala170Glu)/p.(Trp1969Cys)/p.(Arg204*)/p.(Val374Leu)/ |
| 92 | SGCB | c.341C > T/c.341C > T | p.(Ser114Phe)/p.(Ser114Phe) |
Mutations in bold letters were detected only in Czech LGMD2 patients. The variant c.966A > T in italics is probably a nucleotide polymorphism (LMDP, dbSNP-rs7481951).