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Table 2 Mutations of TCF8 (ZEB1) gene on chromosome 10p11.22 and changes in its protein domain

From: Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy

Gene

Nucleotide change

Amino acid change

References

TCF8 (ZEB1)

c.2522A > C

p.Q841P

[38]

c.619A > G

p.S207G

[38]

c.192T > C

p.D64D

[37, 39]

NA

p.T232T

[39]

c.2197G > A

p.E733K

[39]

c.2453C > T

p.A818V

[39]

c.2840 T > A

p.L947stop

[39]

NA

p.S234S

[39]

c.2519A > C

p.Q840P

[11, 39]

c.2087A > G

p.N696S

[37]

c.232A > G

p.N78T

[11]

c.1945C > G

p.P649A

[11]

c.2429A > C

p.Q810P

[11]

c.2714C > G

p.A905G

[11]

c.666 T > C

p.S201S

[19]

c.852 T > C

p.S263S

[19]

c.1721A > G

p.K553R

[19]

c.1738C > T

p.P559S

[19]

c.2037C > G

p.N658K

[19]

c.2124A > C

p.P687P

[19]

c.2623C > A

p.Q854K

[19]

  1. NA not available