300519 RESULTS
MUTATIONS APOE 45412217 GRCh37/hg19 rs1181840153 C A Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 10). Q222K This rare variant has been found in four individuals with normal blood lipid profiles and no reported neurological disorder. A
MUTATIONS APOE 45412233_45412242 GRCh37/hg19 CCTGGGGCGA- Exon 4 Coding Predicted to cause a frameshift introducing a stop codon at amino acid 247. In homozygous form, resulted in near elimination of ApoE protein. A227_E230del Blood Lipids/Lipoproteins, Cardiovascul
MUTATIONS APOE 45412236 GRCh37/hg19 rs121918396 G A Exon 4 Coding Generated a truncated protein and, in homozygous form, nearly eliminated ApoE from plasma. Lipoprotein and lipid profiles in blood indicated a reduction in hepatic removal of remnant lipoprotein part
MUTATIONS APOE 45412241 GRCh37/hg19 rs567353589 G A Exon 4 Coding Increased heparin binding, while decreasing cellular internalization and degradation in cultured cells. E230K Blood Lipids/Lipoproteins Although globally very rare, this variant is relatively frequen
MUTATIONS APOE 45412256 GRCh37/hg19 rs530010303 C T Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 25). R235W Hyperlipoproteinemia Type IIa This variant was identified in a 56-year-old man in a Norwegian cohort of 98 patients with hype
MUTATIONS APOE 45412278 GRCh37/hg19 rs267606663 G A Exon 4 Coding Binding to LDL cell surface receptors and heparin was similar to wildytpe ApoE3. R242Q Blood Lipids/Lipoproteins This variant was identified in a patient with an abnormal blood lipid profile and lipi
MUTATIONS APOE 45412289 GRCh37/hg19 rs121918395 C T Exon 4 Coding Receptor-binding activity was normal in a competitive binding assay. R246C Hyperlipoproteinemia Type IV, Hyperlipoproteinemia Type V This variant was identified in identical twin brothers from New Ze
MUTATIONS APOE 45412295 GRCh37/hg19 G T Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 27). D248Y Kidney Disorder: Lipoprotein Glomerulopathy GAC TAC 248 apolipoprotein E (Asp230Tyr) Hong Kong, apolipoprotein E Hong Kong
MUTATIONS APOE 45412337 GRCh37/hg19 G A 45412340 GRCh37/hg19 G A Exon 4 Coding Unclear, but predicted damaging by multiple in silico algorithms. E262_E263delinsKK Multiple Conditions In this variant, two contiguous glutamates in ApoE’s lipid-binding region are subs
MUTATIONS APOE 45412357 GRCh37/hg19 A G Exon 4 Coding Unknown, but did not reach commonly used in silico threshold for deleteriousness (PHRED-scaled CADD = 9). I268M Hyperlipoproteinemia Type IIa This variant was identified in a Chilean child who suffered from pres
MUTATIONS APOE 45412358 GRCh37/hg19 rs267606661 C G Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 23). R269G Alzheimer's Disease, Multiple Conditions This rare variant reduces the risk of Alzheimer’s disease (AD) as assessed by a
MUTATIONS APOE 45412361_45412362 GRCh37/hg19 CT GA Exon 4 Coding Unknown. L270E Hyperlipoproteinemia Type IIa This variant was described in a 38-year-old Caucasian woman in Germany diagnosed with hyperlipoproteinemia type IIa (HLPP2a), a condition characterized by
MUTATIONS APOE 45412428 GRCh37/hg19 rs121918398 G A Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 25). R292H Blood Lipids/Lipoproteins This rare variant was found in an individual from a randomly collected population of healthy 35-yea
MUTATIONS APOE 45412435 GRCh37/hg19 rs557715042 G T Exon 4 Non-Coding Unknown, but predicted to alter ApoE structure by in silico analyses. W294C This variant has not been associated with any disease or condition, but computer modeling suggests it alters ApoE struc
MUTATIONS APOE 45412493 GRCh37/hg19 rs28931579 A C Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 11). S314R Blood Lipids/Lipoproteins This rare variant was identified in a healthy, 40-year-old Dutch man (van den Maagdenberg et al., 1993
No filters selected
