Table 4
Novel missense alterations in ATP6V1B1 and ATP6V0A4. Each was typed in 78 control chromosomes; all except T30I were conserved across numerous species including yeast
| Amino acid position and change | Nucleotide alteration | % allele frequency in controls | Enzyme | Product sizes before & after digestion | |
|---|---|---|---|---|---|
| *Detected by allele specific PCR.15 | |||||
| ATP6V1B1 | |||||
| Exon 1 | T30I | 90C>T | 77:23 | BstEII | 240 → 177+63 |
| Exon 5 | G123V | 368G>T | 100:0 | Bsu36I | 205 → 50+155 |
| Exon 6 | R157C | 469C>T | 100:0 | HpyCH4V | 251 → 124+68+59 (‘cut’) or 183+68 (‘uncut’) |
| ATP6V0A4 | |||||
| Exon 9 | G175D | 524G>A | 100:0 | MspI | 234 → 171+63 |
| Exon 15 | R449H | 1346G>A | 100:0 | HhaI | 295 → 190+105 |
| Exon 22 | R807Q | 2420G>A* | 100:0 | ||
| Intron 17 | IVS17+2–+3insT | 100:0 | MseI | 240 → 190+50 | |
