Table 3.
ATP6i Gene Mutations
| No. | Location in DNA | Genomic mutation | Predicted consequence | Location in protein | Allele |
|---|---|---|---|---|---|
| 1 | Exon 11 | del G8521 | G410fsX429 | I/II transmembrane domains | Homozygous |
| 2 | Exon 13 | C8980A | Y512X | III/IV transmembrane domains | Homozygous |
| 3 | Intron 14 | G10106A splice acceptor site position-1 | Abnormal splicing | IV/V loop | Heterozygous |
| Exon 18 | C11278T last nucleotide of exon 18 | Abnormal splicing or Q746X ?? | VIII transmembrane domain | ||
| 4 | Intron 18 | G11279A splice donor site position + 1 | Putative abnormal splicing | VIII transmembrane domain | Homozygous |