Table 2 Predicted effects of the FUCA1 variants

Deletions

c.170delT; p.K57Sfs*75^a

Ex 1

Frameshift

c.230delT; p.F77Sfs*55^a

Ex 1

Missense variants

PolyPhen

PMut

SIFT

c.-13G>A^a

5’UTR

c.-25 T>A^a

5’UTR

rs2070956; c.29C>G; p.P10R

Ex 1

0.272

0.04 (98%°) Neutral

0.17

IVS1+39C>T^a

Int 1

rs129756703

Int 1

p.L172L; c.516C>T^a

Ex 2

p.L194N^a;

Ex 3

0.43 (85%), Neutral

p.P213P; c.639A>T^a

Ex 3

p.Y216F; c.647A>T^a

Ex 3

0.022

0.08

IVS3+5G>C^a; C.662+5g>c

Int 3

IVS3-25T>A^a

Int 3

rs180788085C>T

Int 4

rs907245739

Int 4

Rs1177361428; p.G332E; c.994G>A^a

Ex 6

0.977

0.82 (90%), Disease

0.00

Rs1329117558C>T

Int 8

Rs965877153T>C

Rs1344267327

g.2806G>A^a

5′UTR