Single nucleotide polymorphisms in ATP6V1B1 and ATP6V0A4 used for genotyping. Each had been identified during previous mutation screening and typed in 50 control chromosomes. All were found to be in Hardy-Weinberg equilibrium
| Amino acid position and change | Nucleotide alteration | % allele frequency (cut:uncut) | Enzyme | Product sizes before & after digestion | |
|---|---|---|---|---|---|
| *Conserved in all species except Neurospora. | |||||
| †Not evolutionarily conserved. | |||||
| ATP6V1B1 | |||||
| Exon 2 | S46S | 138T>C | 36:64 | TspRI | 282 → 123+159 |
| Intron 3 | IVS3+117C>A | 46:54 | HpyCH4IV | 470 → 237+233 | |
| Exon 6 | E161K* | 481G>A | 90:10 | AvaI | 251 → 66+185 |
| Exon 10 | R334R | 1002C>T | 28:72 | BstUI | 267 → 120+147 |
| ATP6V0A4 | |||||
| Exon 4 | A2V† | 5C>T | 72:28 | BglI | 299 → 149+150 |
| Exon 17 | F554F | 1662T>C | 68:32 | XcmI | 262 → 157+105 |
| Exon 18 | H604H | 1812C>T | 68:32 | BsaAI | 323 → 174+149 |