Table 3 of
Tran-Viet, Mol Vis 2012; 18:937-944. Table 3 of
Tran-Viet, Mol Vis 2012; 18:937-944.
Table 3. Summary of variants identified in ZNF644 in 131 high-grade myopia cases.
| Chromosome 1 base pair location* |
Variant type |
dbSNP132 |
Allele change |
Amino acid change |
Population |
|---|---|---|---|---|---|
| 91487710 | UTR | Novel | A>G | N/A | Caucasian |
| 91487657 | UTR | Novel | C>T | N/A | Caucasian |
| 91487013 | UTR | Novel | G>T | N/A | Caucasian |
| 91447985 | Intronic | rs358691 | A>G | N/A | Caucasian |
| 91406677 | Synonymous | rs17131243 | G>A | L78L | African American |
| 91406033 | Synonymous | Novel | G>A | R293Q | Caucasian |
| 91405699 | Synonymous | rs41286763 | C>T | T404T | Caucasian |
| 91405245 | Nonsynonymous | rs17131242 | A>G | M556V | African American¥ |
| 91405215 | Nonsynonymous | rs60262072 | A>T | T566S | African American¥ |
| 91404592 | Synonymous | Novel | C>T | H773H | Hispanic |
| 91404532 | Synonymous | Novel | C>T | D793D | African American |
| 91404530 | Nonsynonymous | rs10922938 | C>T | A794V | African American¥ |
| 91404303 | Nonsynonymous | rs59922637 | A>G | T870A | African American† |
| 91404256 | Nonsynonymous | rs41286761 | G>T | E885D | Caucasian |
| 91383756 | Intronic | Novel | A>G | N/A | Caucasian |
| 91383589 | Intronic | rs2448020 | G>T | N/A | Multiple |
| 91382635 | Intronic | rs17131234 | G>C | N/A | African American |
| 91382406 | Synonymous | rs114618312 | C>T | A1311A | African American |
| 91382370 | Synonymous | Novel | C>T | A1323A | Asian |
| 91382086 | UTR | Novel | A>T | N/A | African American |
| 91381679 | UTR | rs1188952 | C>T | N/A | Multiple |
| 91381534 | UTR | Novel | A>C | N/A | Caucasian |
| 91381240 | UTR | Novel | C>T | N/A | Caucasian |
| 91381181 | UTR | Novel | G>C | N/A | African American |
| 91381105 | UTR | rs17131232 | A>T | N/A | Multiple |
| 91380797 | Intronic | rs115299241 | C>T | N/A | African American |