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. 2012 Aug 27;7(8):e37437. doi: 10.1371/journal.pone.0037437

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)