Table 2

Summary of KIF21A mutations reported in CFEOM probands to date.

Phenotype & Mutation

Amino acid

Previous Engle Lab Reports6–8

Other Lab's Reports13–16

Current Report

Total

% mutations


CFEOM1 Total

45

12

11

68/70

97%


1067 T>C

M356T

2

0

1

3

4.0%

2830G> C

E944Q

0

0

1

1

1.5%

2839A>G

M947V

1

0

0

1

1.5%

2840T>C

M947T

1

0

0

1

1.5%

2840T>G

M947R

1

0

0

1

1.5%

2860C>T

R954W

32

12

5

49

70%

2861G>A

R954Q

6

0

2

8

11%

2861G>T

R954L

0

0

1

1

1.5%

3022G>C

A1008P

0

0

1

1

1.5%

3029T>C

I1010T

2

0

0

2

3.0%


CFEOM3 Total

2

0

0

2/70

3%


2841G>A

M947I

1

0

0

1

1.5%

2860C>T

R954W

1

0

0

1

1.5%


Chan et al. BMC Genetics 2007 8:26   doi:10.1186/1471-2156-8-26

Open Data