From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
Rearrangement | Classification and orientation of repeat 1 a | Classification and orientation of repeat 2 a | Repeats in the same orientation | Chimeric Alu formation b | Homology between the two repeats (%) c | Length of alignment d | Length of microhomology region (bps) |
---|---|---|---|---|---|---|---|
promoter_exon2del | < AluY | < AluY | yes | yes | 89 | 306 | 42 |
exon2_6dup | < AluSx | < AluSx | yes | yes | 77 | 305 | 23 |
exon3_12del | > AluY | > AluY | yes | yes | 91 | 304 | 49 |
exon4_8dup | < AluSx | non-Alu (MER83) | no homology | no | 35 | 99 | 2 |
exon5_10del | < AluJb | > AluSx | no | no | 35 | 395 | 4 |
exon9_14del | < AluJb | < AluY | yes | yes | 87 | 280 | 5 |
exon9_15del | < AluJb | < AluSx | yes | yes | 70 | 142 | 32 |
exon16_18dup | > AluY | > AluSx | yes | yes | 84 | 291 | 0 |