PMID: 25111166

Mak AC, Pullinger CR, Tang LF, Wong JS, Deo RC, Schwarz JM, Gugliucci A, Movsesyan I, Ishida BY, Chu C, Poon A, Kim P, Stock EO, Schaefer EJ, Asztalos BF, Castellano JM, Wyss-Coray T, Duncan JL, Miller BL, Kane JP, Kwok PY, Malloy MJ
Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function.
JAMA Neurol. 2014 Oct;71(10):1228-36. doi: 10.1001/jamaneurol.2014.2011., [PubMed]
Sentences
No. Mutations Sentence Comment
7 ABCC2 p.Ile670Thr
X
ABCC2 p.Ile670Thr 25111166:7:122
status: NEW
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 No other mutations likely to contribute to the phenotype were discovered, with the possible exception of two, in ABCC2 (p.I670T) and LIPC (p.G137R). Login to comment 202 ABCC2 p.Ile670Thr
X
ABCC2 p.Ile670Thr 25111166:202:76
status: NEW
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ABCC2 p.Asn801Ile
X
ABCC2 p.Asn801Ile 25111166:202:558
status: NEW
view ABCC2 p.Asn801Ile details
 or Chromosome Positiona SIFT Score Allele Frequencyb ABCC2 nsSNV c.T2009C p.I670T Homozygous rs17222632 0 0.0092 APOE fs del c.291delG p.E97fs Homozygous chr19: 45411844 NA NA BUD13 nsSNV c.C1223T p.P408L Heterozygous rs61730763 0.03 0.04 FUT2 fs del c.811delC p.P271fs Heterozygous rs1799761 NA NA LIPC nsSNV c.G409A p.G137R Heterozygous rs199787635 0 0 LRP2 nsSNV c.T1817C p.V606A Heterozygous rs116332504 0 0.03 MCEE nsSNV c.G428A p.R143H Heterozygous rs115175255 0 0.05 PCCA nsSNV c.G925A p.V309M Heterozygous chr13: 100925538 0 NA PLB1 nsSNV c.A2402T p.N801I Heterozygous rs115240682 0.01 0.04 Abbreviations: fs del, frameshift deletion; NA, not applicable; nsSNV, nonsynonymous single-nucleotide variant; SIFT, Sorting Intolerant From Tolerant. Login to comment