Table 2.
List of mutations in BSCL2 gene so far
Exon | cDNA | Protein | Phenotype | References |
---|---|---|---|---|
|
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] |
dHMN= distal motor hereditary neuropathy; CMT2 = Charcot-Marie-Tooth type 2; CGL2 = Congenital generalized lipodystrophy type 2.