Table 5.
Sixteen mutations and a single polymorphism disrupting BPSs
| Gene and intron | Sequence | Consequence | Reference |
|---|---|---|---|
| LCAT intron4 | |||
| Wild-type | CCCTGAC | ||
| Mutant | CCCCGAC | Intron retentiona | (43,44) |
| Mutant | CCCGGAC | Intron retentionb | (45) |
| Mutant | CCCAGAC | Intron retentionb | (45) |
| FBN2 intron30 | |||
| Wild-type | TACTAAG | ||
| Mutant | TACGAAG | Exon skippinga | (46) |
| COL5A1 intron32 | |||
| Wild-type | GACTGAC | ||
| Mutant | GACGGAC | Exon skippinga | (47) |
| ITGB4 intron31 | |||
| Wild-type | GGCTCAC | ||
| Mutant | GGCACAC | Intron retention,a cryptic 3′ splice sitea | (48) |
| TH intron10 | |||
| Wild-type | GGCTGAT | ||
| Mutant | GGCAGAT | Exon skipping,a cryptic 3′ splice sitea | (49) |
| L1CAM intron18 | |||
| Wild-type | ATCCAAG | ||
| Mutant | ATCCACG | cryptic 3′ splice sitea | (50) |
| LIPC intron1 | |||
| Wild-type | CCCCAAT | ||
| Mutant | CCCCAGT | cryptic 3′ splice sitea | (51) |
| FBN2 intron28 | |||
| Wild-type | TTGCAAT | ||
| Mutant | TTGCAGT | Exon skippinga | (52) |
| HEXB intron10 | |||
| Wild-type | TTGCAAT | ||
| Mutant | TTGCAGT | Cryptic 3′ splice sitea | (53) |
| NF2 intron5 | |||
| Wild-type | TTCTAGC | ||
| Mutant | TTCTAAC | Intron retentiona | (54) |
| TSC2 intron38 | |||
| Wild-type | GCGTGAC | ||
| Mutant | GCGTGGC | Cryptic 3′ splice site,a intron retentiona | (55) |
| XPC intron3c | |||
| Wild-type | TACTGAT | ||
| Mutant | TACTGGT | Exon skippinga | (16) |
| NPC1 intron6 | |||
| Wild-type | CACTAAT | ||
| Mutant | CACTAGT | Exon skippinga | (56) |
| F9 intron 2 | |||
| Wild-type | CGTTAAT | ||
| Mutant | CGTTAGT | Exon skippingb | (24,57) |
| DQB1 intron 3c,d | |||
| Genotype A | CACAGAC | Exon skippingb | (17) |
| Genotype U | CACUGAC | Exon inclusionb | (17) |
Mutations or a polymorphism are underlined. Aberrant splicings have been determined in patientsa or minigenesb.
cBranch points have been identified by lariat RT-PCR. Others are putative BPSs lacking in vitro evidence.
dPolymorphism.