ABCMdb

ABCA1 p.Met640Leu

None has been submitted yet.

Publications

PMID: 21875686 [PubMed] Tietjen I et al: "Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT."

No. Sentence Comment

117 COOHA B T929I H2N R587W B A M1091T C1477R K776N N935S S1181F IVS24+1 G>C V2244I R282X D571G M640L S930F M968T R1615WIVS16-5 CA>del ABCA1 Transmembrane domain ATP-binding domain Q597R A) AA 1 AA 267 K130del L202P 74 90 98 112 122 145 167 189 211 215 233 253 APOA1 Negative charge domain Alpha-helix E222K E134DT37M 140 178 206 41127 104 121 165 200 229 360 391 Y135N V246F 127 206 369 401 Catalytic triad R322C L338H V371MV52M Y107X A117T T147I V333M Phe Leu Asp His AA 1 AA 440 R159Q I202T LCAT Alpha helixBeta sheet B) 419I.Tietjenetal./BiochimicaetBiophysicaActa1821(2012)416-424 3.4. Login to comment

PMID: 22952570 [PubMed] Tietjen I et al: "Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol."

No. Sentence Comment

157 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
155 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