From: Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
Exon | cDNA | Protein | Phenotype | References |
---|---|---|---|---|
 | Missense/Nonsense |  |  | |
2 | c.232A>G | p.Thr78Ala | CGL2 | [27] |
2 | c.263A>G | p.Asn88Ser | dHMN | |
2 | c.269C>T | p.Ser90Leu | dHMN, CMT2 | |
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 | |
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 | 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 | |
IVS6 -2A>G | Exon skipping | Protein truncation | CGL2 | [7] |
 | Complex rearrangements |  | ||
1 | c.192_193delCCinsGGA | Â | CGL2 | |
1 | c.193delCinsGGA | Â | CGL2 | [7] |
4-6 | Deletion of exons 4-6 | Â | CGL2 | [5] |
5-6 | Indel leading exons 5–6 deletion | CGL2 | [5] |