Table 2 of Kumar, Mol Vis 2013; 19:2436-2450.


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