Table 3 of
Metlapally, Mol Vis 2008; 14:387-393. Table 3 of
Metlapally, Mol Vis 2008; 14:387-393.
Table 3. Sequence variants observed in the MFRP gene by direct sequencing in various phenotypes studied.
| MFRP gene | Location on Chromosome 11 (base pair) | Nucleotide change(s) | Amino acid change | dbSNP (rs#) | Subject phenotype | |||
| Hyperopia (n=11) | Microphthalmia (n=10) | High Myopia (n=7) | Controls (n=11) | |||||
| Exon 1 | 118722521 | C/T, C->T (sub) | rs883245 (5′ UTR) | 11 | 8 | 7 | 8 | |
| 118722464 | A/G,G->A (sub) | rs883247 (5′ UTR) | 11 | 8 | 7 | 7 | ||
| Exon 4 | 118721714 | A/G,G->A (sub) | Val->Met | rs3814762 (non-synonymous) | 6 | 5 | 5 | 7 |
| Exon 5 | 118721489 | T/C,C->T (sub) | rs36015759 (synonymous) | 6 | 6 | 2 | 5 | |
| 118721441 | C/T,T->C (sub) | rs2510143 (synonymous) | 11 | 10 | 6 | 11 | ||
| Exon 6 | 118720829 | A/G | Met->Val | Novel (non-synonymous) | 1 | 0 | 0 | 0 |
| Intron 8 | 118720229 | A/C | Novel | 2 | 0 | 2 | 1 | |
| 118720230 | C/T | Novel | 0 | 0 | 0 | 1 | ||
| Exon 8 | 118720283 | G/A | Novel | 0 | 0 | 2 | 0 | |
| 118720256 | A/G | rs35885438 (synonymous) | 0 | 1 | 0 | 0 | ||
| Exon 9 | 118719814 | A/G | Val->Met | Novel (non-synonymous) | 1 | 0 | 0 | 0 |
| Intron 9 | 118718992 | A/T | rs948411 | 4 | 3 | 2 | 2 | |
| Intron 11 | 118718544 | A/G | Novel | 1 | 1 | 0 | 0 | |
| Exon 11 | 118718539 | G/T | Ser->Iso | Novel (non-synonymous) | 0 | 0 | 0 | 1 |
| 118718513 | A/G | rs11217241 (synonymous) | 0 | 0 | 1 | 2 | ||
| Exon 13 | 118717345 | A/G | Novel (3′ UTR) | 1 | 0 | 0 | 0 | |