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.