ABCMdb

ABCA1 p.Gln2210His

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Publications

PMID: 22923419 [PubMed] Reddy MV et al: "Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family."

No. Sentence Comment

38 Genotype by sex interaction We included the extended family together with 10 additional families with previously identified mutations in ABCA16-8 in a gene-sex interaction analysis, comprising 200 individuals and 9 different mutations in ABCA1 (DelED1893, G616V, K776N, N1800H, Q2210H, R1851X, R2084X, R909X and S1731C). Login to comment
46 The binary HDL-C affection was tested because the variance of HDL-C levels in these ascertained families is reduced and thus limited for effective quantitative analysis.1 H, Q2210H, R1851111X,XXX d by tttthhehh SSSSOLOLOLOLARARAA pppprrror g nce-component analysis for discrete traits. Login to comment
41 Genotype by Sex Interaction We included the extended family together with 10 additional families with previously identified mutations in ABCA16 -8 in a gene-sex interaction analysis, comprising 200 individuals and 9 different mutations in ABCA1 (DelED1893, G616V, K776N, N1800H, Q2210H, R1851X, R2084X, R909X, and S1731C). Login to comment
158 Figure 3 shows the age-sex specific population HDL-C percentiles by ABCA1 genotypes and sex in 200 French-Canadian family members from 11 French-Canadian families with different ABCA1 mutations (DelED1893, G616V, K776N, N1800H, Q2210H, R1851X, R2084X, R909X, and S1731C). Login to comment

PMID: 16343503 [PubMed] Alrasadi K et al: "Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency."

No. Sentence Comment

5 However, we identified a novel frameshift mutation (F1840L, L1869X); a proband was heteroallelic for the N1800H mutation, previously reported in a case of Tangier disease, and a novel missense mutation (Q2210H); a novel variant (G616V), predicted to impart a functional defect in the protein, was also found in another proband. Login to comment
86 Table 2 Mutations of the ABCA1 gene in French-Canadian probands with HDL deficiency and defective cellular lipid efflux Probandsa Gene region Nucleotide change Amino acid change Predicted effect by Polyphenb Reference ABE Exon 48 C6370T R2084X Truncated protein [8,9] MGA Exon 14 del 2017-2019 del L693 Probably damaging [8,9] ALA Exon 41 del 5618-5623 del ED1893,4 Probably damaging [8,9] RLA Exon 18 C2665T R909X Truncated protein [8,9] RDU Exon 41 C5864T R1851X Truncated protein [4] SBO Exon 40 A5711C N1800H Possibly damaging [27] Exon 49 G6943C Q2210H Probably damaging - RPH Exon 14 G2160T G616V Probably damaging - GOB Exon 41 del 5833 fs F1840L, L1869X Truncated protein - LNO Exon 38 C5505G S1731C Possibly damaging [4] VDU Exon 38 C5505G S1731C Possibly damaging [4] RRI Exon 38 C5505G S1731C Possibly damaging [4] PCH Exon 16 G2641C K776N Possibly damaging [5] GCH - - - - - LBO - - - - - a Probands refer to subjects ID # 301 in the pedigrees. b Polyphen computer software (http://www.bork.embl-heidelberg.de/polphen/). Login to comment
111 In another proband, SBO, we identified heteroallelic mutations N1800H (previously reported in Tangier disease [27]) and a novel mutation, Q2210H, which is predicted to be probably damaging to the protein by the computer program Polyphen. Login to comment
129 These variants, which are highlighted, were not observed in 528 chromosomes examined from subjects with normal HDL-C levels, except the Q2210H, which was present in <1% (data not shown). Login to comment
140 Single amino acid substitutions were identified in the six remaining subjects, with one proband heteroallelic for the N1800H and Q2210H mutation (a novel mutation, predicted to be probably damaging to the protein). Login to comment