Table 5. Additional mutations in individuals with LIPG mutations and low HDLc.
Gene | Mutation | Novel? | Vertebrate conservation | Predicted effect | |
Position (hg18) | Effect | ||||
ABCA1 | Chr9:106631215 T>A | M640L | No [47] | Completely conserved | Possibly damaging (Polyphen-2) |
Chr9:106619433 C>G | IVS24+1G>C | No [15] | Completely conserved | Abolishes splice donor site (Spliceview) | |
Chr9:106618441 G>A | S1181F | No [48] | Completely conserved | Probably damaging (Polyphen-2) | |
LCAT | Chr16:66534158 G>A | T147I | No [12] | Completely conserved | Possibly damaging (Polyphen-2) |
LPL | Chr8:19857809 A>G | N318S | No [13] | Ser tolerated | Reduced HDLc (Reymer et al., 1995) |