Table 3 Rare variants in the laminin and myosin genes
Gene | Subject code | Variant | Protein | SIFT/SNP effect/Indel impact |
|---|---|---|---|---|
Laminins | ||||
LAMA2 | 633 | GGT/GTT | G420V | 0.04 |
LAMB3 | 692 | CGC/CAC | R1143H | 0.05 |
LAMC1 | 841 | GCT/ACT | A610T | 0.02 |
LAMC3 | 628 | TTT/TTG | F794L | 0.01 |
1255 | CCC/CTC | P382L | 0.00 | |
1321 | CGC/CTC | R311L | 0.04 | |
Myosins | ||||
MYH4 | 836 | GAG/− | E1149− | Moderate |
869 | –/A | −990(?) | High | |
MYH7B | 709 | ACA/CCA | T1824P | 0.06 |
MYH11 | 633 | AAG/− | K1386− | Moderate |
692 | GCA/GTA | A1896V | 0.01 | |
836 | GGC/TGC | G1125C | 0.00 | |
MYH15 | 1003 | TGG/TGA | W503stop | High |
MYO1F | 1003 | CGT/TGT | R798C | 0.03 |
MYO1H | 612 | GAG/TAG | E455stop | High |
MYO7A | 811 | CGC/CAC | R900H | 0.05 |
MYO10 | 975 | GTG/ATG | V1468 M | 0.00 |
MYO18A | 1255 | Splice donor | High | |