Skip to main content
. 2013 May 9;8:78. doi: 10.1186/1746-1596-8-78

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.