Table 2. Relative quantification of the proportion of correctly spliced transcripts for different exon 3 haplotypes.
| Exon 3 (p.)a | Subjectsb | %Correctlysplicedc | SDd | Splicingdefecte | PopulationFrequency(LW/MW)f | |
|---|---|---|---|---|---|---|
| Control Haplotypeg | MVAIS | − | 100 | − | − | 0.027/0.008 |
| Haplotype 1 | LIAVA | 9 | n.d. | − | +++ | 0.0/0.0 |
| Haplotype 2 | MIAVAc.465G | 1 | 10.41 | 1.45 | +++ | 0.0/0.0 |
| Haplotype 3 | MIAVAc.465C | 1 | 8.78 | 3.19 | +++ | 0.0/0.0 |
| Haplotype 4 | LVAVA | 6 | 6.71 | 0.27 | +++ | 0.0/0.0 |
| Haplotype 5 | LVAIA | 2 | 79.40 | 0.97 | ++ | 0.23/0.033 |
| Haplotype 6 | LVAISh | 1 | 98.73 | 1.10 | + | 0.0/0.0 |
| Haplotype 7 | MVAIA | 1 | 97.62 | 0.19 | + | 0.094/0.6 |
| Haplotype 8 | LIAIA | 1 | 40.75 | 0.23 | ++ | 0.0/0.0 |
| Haplotype 9 | MVVVAc.465G | 2 | 80.07 | 0.35 | + | 0.0/0.025 |
| Haplotype 10 | MVVVAc.465C | 3 | 75.59 | 0.65 | + | 0.027/0.21 |
| Haplotype 11 | LIAVS | 1 | 20.3 | 0.0 | ++ | 0.0/0.0 |
| Haplotype 12 | MVAVA | 1 | 53.0 | 0.0 | ++ | 0.013/0.016 |
aExon 3 haplotypes referring to the encoded amino acid combination.
bNumber of subjects (index) carrying this haplotype.
cProportion of RT-PCR products from correctly spliced transcripts (450 bp).
dStandard deviation (SD), calculated from technical triplicates.
eRelevance of the splicing defect (−, no splice defect; +, more than 75% correctly spliced product; ++, 20–50% of correctly spliced product; +++, below ~10% of correctly spliced product ).
fFrequency of haplotypes in the population as reported by Winderickx et al.22.
gControl haplotype as reported by Ueyama et al.20.
hThis haplotype LVAIS includes an additional missense variant (c.556 C > T/p.P186S; RefSeq: NM_020061.5) in exon 3 of the LW gene.