ABCA1 p.Ser107Tyr
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 17303779
[PubMed]
Kiss RS et al: "Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects."
No.
Sentence
Comment
43
In the coding region of PLTP, 2 heterozygous nonsynonymous sequence variants were detected in the low HDL population: S107Y and R459Q.
X
ABCA1 p.Ser107Tyr 17303779:43:118
status: NEW45 Previous studies demonstrated the importance of the C-terminal region for the functional activity of PLTP and the arginine at position 459 is within the C-terminus.31 PLTP expression in COS7 cells showed that PLTP mutants S107Y and R459Q had normal and 33% decrease in specific activity relative to wild-type protein, respectively (115.3Ϯ11.2, 66.7Ϯ6.0 of wild-type activity).
X
ABCA1 p.Ser107Tyr 17303779:45:222
status: NEW46 These results suggest that S107Y mutant has normal function, but the R459Q mutant had a significant reduction in activity, which could contribute to impaired HDL metabolism.
X
ABCA1 p.Ser107Tyr 17303779:46:27
status: NEW38 In the coding region of PLTP, 2 heterozygous nonsynonymous sequence variants were detected in the low HDL population: S107Y and R459Q.
X
ABCA1 p.Ser107Tyr 17303779:38:118
status: NEW40 Previous studies demonstrated the importance of the C-terminal region for the functional activity of PLTP and the arginine at position 459 is within the C-terminus.31 PLTP expression in COS7 cells showed that PLTP mutants S107Y and R459Q had normal and 33% decrease in specific activity relative to wild-type protein, respectively (115.3afe;11.2, 66.7afe;6.0 of wild-type activity).
X
ABCA1 p.Ser107Tyr 17303779:40:222
status: NEW41 These results suggest that S107Y mutant has normal function, but the R459Q mutant had a significant reduction in activity, which could contribute to impaired HDL metabolism.
X
ABCA1 p.Ser107Tyr 17303779:41:27
status: NEW