ABCA1 p.Ser930Phe

[switch to full view]
Comments [show]
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.
X
ABCA1 p.Ser930Phe 21875686:117:98
status: NEW
Login to comment

PMID: 23136402 [PubMed] Bochem AE et al: "ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden."
No. Sentence Comment
69 Subjects were carriers of the following mutations: c.6401+2T.C, p.Ser930Phe, p.Ser824Leu, p.Arg587Trp, p.Thr929Ile, p.Asn935Ser, c.3535+1G.C, p.Asp571Gly, p.Asn1800his, p.Leu1056Pro, p.Gln1038Ter, c.1195-1G.C, p.Arg579Gln, and p.Phe1760Valfs*21.
X
ABCA1 p.Ser930Phe 23136402:69:66
status: NEW
Login to comment

79 The efflux capacity of the remaining nine mutations: p.Asn935Ser, c.3535+1G.C, p.Ser824Leu, p.Ser930Phe, p.Gln1038Ter, c.1195-1G.C, c.6401+2T.C, p.Asp571Gly, and p.Arg579Gln are listed in Figure 1.
X
ABCA1 p.Ser930Phe 23136402:79:94
status: NEW
Login to comment

PMID: 26109739 [PubMed] Bochem AE et al: "Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins."
No. Sentence Comment
28 Homozygous and compoundheterozygoussubjectshadTangierDisease.Subjects were carriers of the following mutations: p.Leu1056Pro, c.3535+1G>C, c.6401+2T>C, p.Asn1800his, p.Ser930Phe, p.Phe1760Valfs*21, p.Ser824Leu, p.Gln1038Ter, p.Thr929Ile, p.Arg587Trp, p.Asn935Ser, and p.Arg579Gln.
X
ABCA1 p.Ser930Phe 26109739:28:168
status: NEW
Login to comment