Table 2. Nucleotide variations found in congenital cataract patients.
| S.No. | Nucleotide Change | Locus | Codon Change | Amino acid Change | Type of Mutation | POLYPHEN/SIFT /Mutation Taster |
|---|---|---|---|---|---|---|
| 1. |
g.27021536* |
CRYBA4 |
ACG>GCG |
T84A |
NS |
0.823/0.02/PM |
| 2. |
g.27021532* |
CRYBA4 |
GGC>GGA |
G82G |
SYN |
NA |
| 3. |
g.27021497* |
CRYBA4 |
CGA>AGA |
R71R |
SYN |
NA |
| 4. |
g.27021485* # |
CRYBA4 |
TAC>AAC |
Y67N |
NS |
3.084/0.00/DC |
| 5. |
rs5761637T>A^ |
CRYBA4 |
TTT>TTC |
F57F |
SYN |
NA |
| 6. |
rs4276A>G^ |
CRYBA4 |
intronic |
NA |
NA |
NA |
| 7. |
rs73880140C>T^ |
CRYBA4 |
intronic |
NA |
NA |
NA |
| 8. |
rs2071862G>A^ |
CRYBA4 |
intronic |
NA |
NA |
NA |
| 9. |
g.G27008082A* # |
CRYBB1 |
GAC>AAC |
D85N |
NS |
1.689/ 0.02/DC |
| 10. |
g.G27008112A*# |
CRYBB1 |
GAA>AAA |
E75K |
NS |
2.002/0.00/DC |
| 11. |
rs57400078C>A^ |
CRYBB1 |
intronic |
NA |
NA |
NA |
| 12. |
g. A26997943G*# |
CRYBB1 |
GAA>AAA |
E155K |
NS |
2.088/0.00/DC |
| 13. |
g. G25617606A* |
CRYBB2 |
GAT>AAT |
D4N |
NS |
0.552/0.49/DC |
| 14. |
g.G25617414A* |
CRYBB2 |
CAG>CAA |
Q6Q |
SYN |
NA |
| 15. |
c. A178G # |
GJA3 |
ATG>GTG |
M1V |
NS |
2.864/0.00/TP |
| 16. |
g.G17475531A* |
BFSP1 |
GAC>AAC |
D395N |
NS |
1.398/0.01/PM |
| 17. |
g.G17475444A* |
BFSP1 |
GAA>AAA |
E424K |
NS |
0.521/0.92/DC |
| 18. | rs147241220 A>G^ | BFSP1 | CTA>CTG | L44L | SYN | NA |
(Abbrevations: *Novel variations, ^Reported-Ensembl, SYN-synonymous, NS-Non synonymous, A-Not applicable, PM-polymorphism, TP-Truncated protein, DC-disease causing), #-Pathogenic variations