ABCMdb

ABCA1 p.Trp1699Cys

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Publications

PMID: 19019193 [PubMed] Pisciotta L et al: "Severe HDL deficiency due to novel defects in the ABCA1 transporter."

No. Sentence Comment

16 The fourth patient, with preclinical atherosclerosis, was a compound heterozygote for two missense mutations (p.R587W/p.W1699C). Login to comment
19 The mutant p.W1699C was largely retained in the endoplasmic reticulum, when expressed in HEK293 cells. Login to comment
75 Mutant ABCA1-GFP cDNA (corresponding to the naturally occurring mutant p.W1699C) was obtained by site-directed mutagenesis (Stratagene, La Jolla, CA, USA). Login to comment
98 p.D1567_K1591); M3 (p.I74YFsX76); M4 (p.W1699C); M5 (p.R587W); ND, not determined. Login to comment
147 The proband was found to be a compound heterozygote for the following mutations of the ABCA1 gene: (i) a C>T transition in exon 14 (c.1759 C>T, p.R587W), inherited from the mother; (ii) a G>T transversion in exon 37 (c.5097 G>T, p.W1699C), inherited from the father (Fig. S3). Login to comment
149 The sister (subject II.2) and the niece (subject III.1) of the proband were heterozygous for the p.W1699C mutation. Login to comment
187 Finally the mutant ABCA1-GFP p.W1699C (found in the compound heterozygote of family 4) was largely retained in the cytoplasm (Fig. 6c), mainly in the endoplasmic reticulum as demonstrated by the co-localization with calnexin (Fig. 6c, right panel). Login to comment
203 HEK293 cells were transiently transfected with pcDNA3.1 ABCA1-GFP wild type (a) ABCA1-GFP del p.K422_K1524 (an artificial mutant containing a large deletion spanning from exon 11 to exon 33) (b) and ABCA1-GFP p.W1699C (c) mutant vectors. Login to comment
215 The proband of family 4 was a compound heterozygote carrying two missense mutations (p.R587W and p.W1699C). Login to comment
223 The second missense mutation (p.W1699C) found in the proband of family 4 is a novel mutation, expected to have a deleterious effect on ABCA1 function, as indicated by computational analysis with PolyPhen, PANTHER and SIFT algorithms (Table S2). Login to comment
227 As an alternative, we expressed the p.W1699C mutant (ABCA1-GFP-W1699C) in HEK293 cells and examined its intracellular localization (Fig. 6c). Login to comment
229 It is possible that the p.W1699C mutant retains some residual function, as the plasma HDL-C levels found in the three family members carrying this mutation were not as low as might be expected in carriers of null ABCA1 alleles. Login to comment

PMID: 26546829 [PubMed] Ramasamy I et al: "Update on the molecular biology of dyslipidemias."

No. Sentence Comment

1064 All three mutations p.A1046D, p. Y1532C and p. W1699C were reported to be deleterious in functional studies (473). Login to comment