ABCMdb

PMID: 18974039

Juan T, Veniant MM, Helmering J, Babij P, Baker DM, Damore MA, Bass MB, Gyuris T, Chhoa M, Li CM, Ebeling C, Amato J, Carlson GA, Lloyd DJ
Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice.
J Lipid Res. 2009 Mar;50(3):534-45. Epub 2008 Oct 29., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA1 p.Ser1748Leu An S1748L missense mutation was identified in ABCA1 in one pedigree with undetectable levels of HDL-cholesterol and resulted in reduced protein levels. Login to comment 240 ABCA1 p.Ser1748Leu The S1748L mutation in Abca1 recapitulates the phenotype observed in knockout mice (35-37). Login to comment 241 ABCA1 p.Ser1748Leu The S1748L mutation in Abca1 recapitulates the phenotype observed in knockout mice (35-37). Login to comment 243 ABCA1 p.Ser1748Leu Although the phenotype observed in S1748L mutant mice is very similar to that of the knockouts, we observed a minimal amount of protein. Login to comment 244 ABCA1 p.Ser1748Leu Although the phenotype observed in S1748L mutant mice is very similar to that of the knockouts, we observed a minimal amount of protein. Login to comment 246 ABCA1 p.Asn1800His ABCA1 p.Ser1748Leu ABCA1 p.Val1704Asp 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). Login to comment 247 ABCA1 p.Asn1800His ABCA1 p.Ser1748Leu ABCA1 p.Val1704Asp ABCA1 p.Val1704Asp ABCA1 p.Trp840Arg Although 44 missense mutations have been identified in ABCA1, only 2 (W840R and V1704D) are expected to lie in the transmembrane domain. Login to comment 248 ABCA1 p.Val1704Asp ABCA1 p.Trp840Arg Although 44 missense mutations have been identified in ABCA1, only 2 (W840R and V1704D) are expected to lie in the transmembrane domain. Login to comment