ABCMdb

ABCA1 p.Arg1068Cys

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Publications

PMID: 21763656 [PubMed] Suetani RJ et al: "Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease."

No. Sentence Comment

137 Indeed, SIFT predicts any residue substitution at position 1068 to be tolerated except R1068W which does not align with the observation that p.R1068H and the p.R1068C mutation are associated with extremely reduced HDL levels [11,23]. Login to comment

PMID: 16225879 [PubMed] Slatter TL et al: "Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia."

No. Sentence Comment

164 Furthermore, a different mutation of the same amino acid (R1068C) has recently been reported in a compound heterozygote with virtually no HDL [15]. Login to comment

PMID: 15262183 [PubMed] Probst MC et al: "Screening for functional sequence variations and mutations in ABCA1."

No. Sentence Comment

10 In patients with HDL deficiency, three novel mutations have been identified (W590L, W840R and R1068C). Login to comment
59 19 years 30 years 53 years Chol TG LDL HDL Lp(a) 116 59 82 30 <5.9 Apo E3/E4 GOT 23U/L, GPT 20 U/L, bilirubine (tot.) 1.16 Chol TG LDL HDL Lp(a) 153 94 112 27 22.7 Apo E3/E3 Chol TG LDL HDL Lp(a) 131 50 88 40 10.9 ApoE2/E3 60 years Chol TG LDL HDL Lp(a) 161 107 91 60 <5.9 ApoE3/E4 (TC ∆ ) Exon 23 G6PD deficiency R1068C I-1 I-1 I-2 I-2 dec. 67 years II-1 II-1 II-2 II-2 40 years 31 years 70 years Chol TG LDL HDL ApoAI 309 59 228 70 170 Chol TG LDL HDL ApoAI 283 145 175 54 156 Chol TG LDL HDL ApoAI 304 48 168 125 244 n.d. 60 years 32 years 23 years Chol TG LDL HDL ApoAI 237 100 121 48 110 Chol TG LDL HDL ApoAI 316 24 2 5 Chol TG LDL HDL ApoAI 158 74 109 33 86 68 years Chol TG LDL HDL ApoAI 121 191 33 87 96 49 I-1 I-2 II-1 II-2 V771M (patient A) (patient D) (patient E) A D E Fig. 1. Login to comment
192 In addition, patient D was heterozygous for a novel sequence variation in exon 22, Table 5 Sequence variations found in ABCA1 and phenotypes of patients Exon Amino acid Nucleotide Position in DNA (AF275948) Position in mRNA (NM005502) Found in patient with 14 W590L TG ¯ G → TC ¯ G 98481 2082 HDL deficiency (C) 16 V771M G ¯ TG → A ¯ TG 102555 2624 Increased HDL (A) 17 W840R T ¯ GG → A ¯ GG 103822 2831 HDL deficiency (B) 22 R1068C C ¯ GC → T ¯ GC 109904 3515 HDL deficiency (D) 49 F2163S TT ¯ T → TC ¯ T 143483 6801 Low HDL and G6PD deficiency (E) 50 V2244I G ¯ TT → A ¯ TT 144665 7043 A C ABC B S A N ABC B S 44 23 703 681 718 740 769 747 774-794 822 842 1368 1346 1655 1677 1724 1702 1737 1759 1790 1768 1848 1870 642 660 W590L R1068C F2163S P2150L V2244I V771M W840R Fig. 4. Login to comment
196 which results in the amino acid exchange arginine to cysteine at codon 1068 (R1068C). Login to comment
200 The mother was found heterozygous for amino acid exchange R1068C (see pedigree D, Fig. 1). Login to comment
241 In the probands with HDL deficiency (patients B, C and D), we have identified three novel sequence variations: W840R, W590L and R1068C. Login to comment
246 It is very likely that the amino acid exchange R1068C, encountered in patient D, results in a defect or less active ABCA1 product. Login to comment
247 Although the mother, who is heterozygous for this sequence variation, was found to have quite normal HDL and apo A-I levels, the index patient who is compound heterozygous for R1068C and a known Tangier mutation ( (TC) in exon 23), showed analphalipoproteinemia. Login to comment
249 The father and the sister, who are heterozygous for the Tangier mutation and have no additional R1068C mutation, show typical reduced HDL levels but no analphalipoproteinemia. Login to comment

PMID: 22959828 [PubMed] Fasano T et al: "Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency."

No. Sentence Comment

6 Three of these patients were heterozygous for known mutations (p.R130K+p.N1800H, p.R1068C, p.N1800H), while two were carriers of novel mutations (c.1195-27G>A and c.396_397insA), predicted to encode truncated proteins. Login to comment
176 PolyPhen (PSIC score) SIFT (P score) p.R130K Possibly damaging (1.540) Predicted tolerated p.R1068C Probably damaging (3.143) Predicted not tolerated (0.00) p.D1099Y Probably damaging (3.047) Predicted not tolerated (0.00) p.H1600R Probably damaging (3.197) Predicted not tolerated (0.02) p.N1800H Possibly damaging (1.845) Predicted tolerated termination codon (p.R587Afs*43) and ii) a single nucleotide substitution (c.4799A>G) in exon 36, resulting in a novel missense mutation (p.H1600R) (Table 1). Login to comment
222 3.9. Patient # Ge-9 3.9.1. Analysis of ABCA1 gene This patient was found to be heterozygous for a missense mutation (c.3202C>T, p.R1068C), previously described in a compound heterozygous patient [20]. Login to comment
223 In silico analysis predicted that the p.R1068C mutation was probably damaging (Table 2). Login to comment