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Table 3 Mutations detected in CYP1B1 in PCG patients from Saudi Arabia

From: CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

Nucleotide change

Amino-acid change

Patient heterozygous

Patient homozygous

Families

PhyloP

Grantham distance

SIFT score*

PolyPhen**

dbSNP

c.-1-12C > T

N/A

2

1

N/A

N/A

N/A

N/A

N/A

rs2617266

c.142C > G

p.Arg48Gly

2

2

N/A

−1.25

125

0.38

0.00

rs10012

c.355G > T

p.Ala119Ser

3

3

N/A

−0.28

99

0.79

0.00

rs1056827

c.729G > C

p.Val243Val

1

0

N/A

N/A

N/A

N/A

N/A

rs9341249

c.1328C > G

p.Ala443Gly

1

0

N/A

0.85

60

0.19

0.00

rs4986888

c.1347T > C

p.Asp449Asp

5

3

1

N/A

N/A

N/A

N/A

rs1056837

c.182G > A

p.Gly61Glu

1

17

4

3.34

98

0.0

1.00

rs28936700

c.685G > A

p.Glu229Lys

1

0

N/A

3.6

56

0.03

0.99

Rs57865060

c.1405C > T

p.Arg469Trp

4

4

3

1.09

101

0.0

1.0

Rs28936701

  1. [5]-[7],[10]-[19] *Substitutions with a SIFT score <0.05 are predicted to be deleterious, **Polyphen scores near 1 are confidently predicted to be pathogenic. N/A = Not Applicable.