ABCMdb

PMID: 22952570

Tietjen I, Hovingh GK, Singaraja RR, Radomski C, Barhdadi A, McEwen J, Chan E, Mattice M, Legendre A, Franchini PL, Dube MP, Kastelein JJ, Hayden MR
Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol.
PLoS One. 2012;7(8):e37437. Epub 2012 Aug 27., [PubMed]

Sentences

No. Mutations Sentence Comment

155 ABCA1 p.Ser1181Phe ABCA1 p.Met640Leu 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) doi:10.1371/journal.pone.0037437.t005 result in large increases and reductions in HDLc, respectively [13,29,30], which further support a role for GALNT2 loss-of-function mutations in HDLc elevation. Login to comment 157 ABCA1 p.Ser1181Phe ABCA1 p.Met640Leu 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) doi:10.1371/journal.pone.0037437.t005 result in large increases and reductions in HDLc, respectively [13,29,30], which further support a role for GALNT2 loss-of- function mutations in HDLc elevation. Login to comment