ABCA1 p.Ser1748Leu
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PMID: 18974039
[PubMed]
Juan T et al: "Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice."
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3
An S1748L missense mutation was identified in ABCA1 in one pedigree with undetectable levels of HDL-cholesterol and resulted in reduced protein levels.
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ABCA1 p.Ser1748Leu 18974039:3:3
status: NEW240 The S1748L mutation in Abca1 recapitulates the phenotype observed in knockout mice (35-37).
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ABCA1 p.Ser1748Leu 18974039:240:4
status: NEW243 Although the phenotype observed in S1748L mutant mice is very similar to that of the knockouts, we observed a minimal amount of protein.
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ABCA1 p.Ser1748Leu 18974039:243:35
status: NEW246 The S1748L mutation is predicted to be located in a transmembrane domain between the V1704D and N1800H missense mutations identified in patients with Tangier disease (39).
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ABCA1 p.Ser1748Leu 18974039:246:4
status: NEW247 Although 44 missense mutations have been identified in ABCA1, only 2 (W840R and V1704D) are expected to lie in the transmembrane domain.
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ABCA1 p.Ser1748Leu 18974039:247:4
status: NEW241 The S1748L mutation in Abca1 recapitulates the phenotype observed in knockout mice (35-37).
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ABCA1 p.Ser1748Leu 18974039:241:4
status: NEW244 Although the phenotype observed in S1748L mutant mice is very similar to that of the knockouts, we observed a minimal amount of protein.
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ABCA1 p.Ser1748Leu 18974039:244:35
status: NEW