Table 2 List of mutations in BSCL2 gene so far

Missense/Nonsense

2

c.232A>G

p.Thr78Ala

CGL2

[27]

2

c.263A>G

p.Asn88Ser

dHMN

[16, 18, 28]

2

c.269C>T

p.Ser90Leu

dHMN, CMT2

[18, 29, 30]

2

c.269C>G

p.Ser90Trp

dHMN, CMT2

[22]

2

c.272T>C

p.Leu91Pro

CGL2

[27]

3

c.412C>T

p.Arg138X

CGL2

[5]

4

c.560A>G

p.Tyr187Cys

CGL2

[15]

4

c.565G>T

p.Glu189X

CGL2

[14]

5

c.634G>C

p.Ala212Pro

CGL2

[5, 25]

6

c.684C>G

p. Tyr228X

CGL2

[7]

7

c.823C>T

p.Arg275X

CGL2

[31]

10

c.1171C>T

p.Gln391X

CGL2

[27]

Insertion

1

c.154_155insTT

p.Tyr53SerfsX39

CGL2

[7]

3

c.301_302insAA

p.Met101LysfsX10

CGL2

[5]

3

c.325insA

p.Thr109AsnfsX5

CGL2

[5]

6

c.782dupG

p.Ile262HisfsX12

CGL2

[7]

Deletion

3

c.315_316delGT

p.Tyr106SerfsX7

CGL2

[5]

3

c.317_321delATCGT

p. Tyr106CysfsX6

CGL2

[5, 25]

5

c.636delC

p.Tyr213ThrfsX20

CGL2

[5]

5

c.652_662del11

p.Ala218TrpfsX51

CGL2

[32]

Splice-site

IVS2 -11A>G

Exon skipping

Protein truncation

CGL2

[33]

IVS4 +1G>A

Exon skipping

Protein truncation

CGL2

[5]

IVS5 -2A>G

Exon skipping

Protein truncation

CGL2

[27]

IVS5- 2A>C

Exon skipping

Protein truncation

CGL2

[34]

IVS6 +5G>A

Exon skipping

Protein truncation

CGL2

[5]

IVS6 -3C>G

Exon skipping

Protein truncation

CGL2

[5, 25]

IVS6 -2A>G

Exon skipping

Protein truncation

CGL2

[7]

Complex rearrangements

1

c.192_193delCCinsGGA

CGL2

[5, 25]

1

c.193delCinsGGA

CGL2

[7]

4-6

Deletion of exons 4-6

CGL2

[5]

5-6

Indel leading exons 5–6 deletion

CGL2

[5]