Skip to main content

Table 3 Variants identified in other SARCFAM families

From: G908R NOD2 variant in a family with sarcoidosis

GENE

rs

Exon

Codon

TYPE

EFFECT

SIFT

POLYPHEN

Accession

Number of family

MAF (ExAC)

NUCLEOTIDE

ChR

POSITION

DEPTH mini

EPHA2

rs139787163

3

959

missense

Ala959Thr

0,05

0,828

NM_004431.3

Family X

0.000346

Gcc/Acc

1

16,451,766

48

EPHA2

rs150790360

3

165

missense

Val165met

0

0,062

NM_004431

1

0.001535

Gtg/Atg

1

16,475,203

157

EPHA2

rs139787163

17

959

missense

Ala959Thr

0,05

0,828

NM_004431

1

0.000346

Gcc/Acc

1

16,451,766

48

KALRN

rs56407180

1

10

nonsense

Arg10ter

STOP

GAIN

NM_007064.3

Family X

0.002382

c.28C > T

3

124,303,696

528

KALRN

rs35298864

38

1930

missense

Arg1930Met

0

0,891

NM_001024660

1

0.007276

aGg/aTg

3

124,369,782

178

IL17RA

rs140221307

11

320

missense

Trp320Arg

0

0,972

NM_014339.6

Family X

0.001801

c.958 T > C

22

17,586,757

370

IL17RA

rs41323645

13

691

missense

Ala691Thr

0,35

0,926

NM_014339.6

1

0.3023

c.2071G > A

22

17,590,180

160

Additional informations on IL17R

IL17RB

rs2232346

9

278

missense

Phe278Leu

0,65

0

NM_018725.3

Family X

0.01915

c.832 T > C

3

53,892,830

141

IL17RC

nd

6

nd

splice donor

frameshift

splicing

defect

 

1

nd

c.790 + 1G > T

3

9,962,287

155