Table 2

Pathological prediction and frequency in controls of selected SLX4 missense variants

Exon

Nucleotide

change

Amino acid

change

dbSNP†

Pathological prediction

Controls

tested (n)

Number of control

carriers (%)

SIFT

(score < 0.05, deleterious)

PolyPhen-2

(false positive rate)

Condel

(weighted average

of scores)

Condel

prediction


2

c.248G > C

p.Gly83Ala

NA

0.14

0.15

0.15

Neutral

283

0

2

c.421G > T

p.Gly141Trp

NA

0.00

0.86

0.86

Deleterious

284

2 (0.7)

3

c.590T > C

p.Val197Ala

NA

0.48

0.01

0.00

Neutral

284

1 (0.4)

3

c.710G > A

p.Arg237Gln

NA

0.49

0.00

0.38

Neutral

284

4 (1.4)

8

c.1846G > A

p.Val616Met

NA

0.17

0.62

0.80

Deleterious

281

0

12

c.2469G > C

p.Trp823Cys

NA

0.01

1.00

0.97

Deleterious

282

0

12

c.3872C > T

p.Thr1291Met

NA

0.05

0.98

0.99

Deleterious

283

0

12

c.4261A > T

p.Ille1421Phe

NA

0.08

0.77

0.77

Deleterious

285

0

12

c.4409C > T

p.Pro1470Leu

rs72778139

0.02

0.99

0.96

Deleterious

283

0

14

c.5072A > G

p.Asn1691Ser

NA

0.56

0.00

0.01

Neutral

285

0


†Build 133; NA, not applicable

Fernández-Rodríguez et al. BMC Cancer 2012 12:84   doi:10.1186/1471-2407-12-84

Open Data