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Table 1 Mutations observed in FZD4, TSPAN12 and ZNF408 genes in FEVR patients

From: Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients

Family number

Gene/Exon

cDNA changea

Protein changeb

In silico analysis

Occurrence in

Novel/ Reported

Functional significance

SIFT (score)

PolyPhen-2 (score)

Mutation Taster (probability value)

Patients

Controls

1

FZD4/2

c.341T>G

p.Ile114Ser

Damaging (0.00)

Probably damaging (0.996)

Disease causing (0.9999)

1/110

0/115

Novel

Pathogenic

2

FZD4/2

c.1395_

1396insT

p.Arg466Ser

fs*6

-

-

-

1/110

0/115

Novel

Pathogenic

3

FZD4/2

c.1613A>C

p.*538Serext*2

-

-

-

1/110

0/115

Novel

Pathogenic

c.1286-1290

delAGTTA

p.Lys429Arg

fs*28

-

-

-

1/110

0/115

Reported [52]

Pathogenic

4

FZD4/2

c.1282_1285

delGACA

p.Asp428Ser

fs*2

-

-

-

2/110

0/115

Reported [1, 2, 15, 16]

Pathogenic

5

6

FZD4/2

c.470T>C

p.Met157Thr

Damaging (0.039)

Benign (0.256)

Disease causing (0.9999)

1/110

0/115

Reported [2]

Pathogenic

ZNF408/5

c.694A>G

p.Met232Val

Tolerated (0.508)

Benign (0.000)

Polymorphism (0.9999)

1/110

0/115

Novel

Unknown significance

7

FZD4/2

c.313A>G

p.Met105Val

Tolerated (0.858)

Possibly damaging (0.793)

Disease causing (0.9999)

3/110

0/115

Reported [1, 2, 16, 18, 20]

Pathogenic

8

9

10

TSPAN12/3

c.125T>C

p.Val42Ala

Damaging (0.023)

Benign (0.127)

Disease causing (0.9998)

1/110

0/115

Novel

Pathogenic

11

TSPAN12/7

c.479G>A

p.Cys160Tyr

Damaging (0.000)

Probably damaging (1.000)

Disease causing (0.9999)

4/110

0/115

Novel

Pathogenic

12

13

14

15

TSPAN12/5

c.334G>A

p.Val112Ile

Tolerated (0.338)

Possibly damaging (0.533)

Disease causing (0.9999)

1/110

0/115

Reported [47]

Pathogenic

16

ZNF408/2

c.130C>T

p.Pro44Ser

Tolerated (0.054)

Benign (0.062)

Polymorphism (0.9999)

1/110

0/115

Novel

Unknown significance

17

ZNF408/5

c.2145G>T

p.Glu715Asp

Damaging (0.003)

Probably damaging (0.966)

Disease causing (0.888)

1/110

0/115

Novel

Pathogenic

  1. aNCBI Reference Sequences for FZD4, TSPAN12 and ZNF408 mRNA are NM_012193.2, NM_012338.3 and NM_024741.2 respectively. b NCBI Reference Sequences for FZD4, TSPAN12 and ZNF408 proteins are NM_036325.2, NP_036470.1 and NP_079017.1 respectively. The effect of missense changes were predicted using SIFT, PolyPhen-2 and Mutation Taster online prediction tools. In SIFT, the scores less than 0.05 were considered as damaging. In PolyPhen-2, the scores less than 0.5 were considered as disease causing