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 |
Abbreviations: N/A- not applicable, UTR- untranslated region, Multiple - variant found in more than one population, dbSNP132. *GRCh37.p5. ¥-Identified in IND0603564. †-Identified in IND0603416.