ABCMdb

ABCA1 p.Asn935His

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Publications

PMID: 20656214 [PubMed] Kang MH et al: "Adenosine-triphosphate-binding cassette transporter-1 trafficking and function."

No. Sentence Comment

127 A number of clinically relevant mutations of ABCA1 (R587W, Q597R, ΔL693, N935H) acquire only the core and not the complex oligosaccharide chain and fail to exit the ER (Singaraja et al. 2006). Login to comment
128 A number of clinically relevant mutations of ABCA1 (R587W, Q597R, ƊL693, N935H) acquire only the core and not the complex oligosaccharide chain and fail to exit the ER (Singaraja et al. 2006). Login to comment

PMID: 19556721 [PubMed] Koseki M et al: "Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations."

No. Sentence Comment

29 This patient was heterozygous for an Asn935His mutation; however, the other mutation in the ABCA1 gene has not been identified yet. Case 4 was diagnosed with homozygous TD in 2002. Login to comment
33 This patient was homozygous for a mutation at A3198C (Asn935His)9) . Login to comment
36 Clinical characteristics of Japanese patients with Tangier disease and normal subjects Case 1 Case 2 Case 3 Case 4 Normal (n =123) ABCA1 mutations Ala255Thr Arg1851Stop Asn935His/N.D.＊ Asn935His Age (years)/Sex (M/F) BMI (kg/m2 ) Fasting plasma glucose (mg/dL) Fasting plasma insulin (μU/mL) HbA1c (%) Total cholesterol (mg/dL) HDL-cholesterol (mg/dL) Triglycerides (mg/dL) 54M 24.6 163 4.0 5.8 35 0＊＊ 395 71F - 180 4.0 7.9 59 6.0 162 44M 23.5 180 3.0 - 64 2.5 272 74M 22.4 176 4.26 6.1 69 3.5 42 55.3±6.9 (M94/F29) 23.4±0.8 93.8±6.9 5.1±3.0 4.7±0.3 198.3±31.1 52.2±14.1 127.0±92.1 Coronary artery disease (＋) (＋) Sudden death (＋) 3VD, CABG (-) 3VD: triple vessel disease, CABG: coronary artery bypass graft surgery Data are the means±SD. ＊ N.D.: The other mutation has not been identified so far. ＊＊ Less than sensitivity subjects. Login to comment

PMID: 16873719 [PubMed] Singaraja RR et al: "Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro."

No. Sentence Comment

54 Of the mutants not localizing to the plasma membrane, R587W, Q597R, ⌬L693, and N935H are all EndoH sensitive, indicating that they do not exit the ER. Login to comment

PMID: 16429166 [PubMed] Brunham LR et al: "Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene."

No. Sentence Comment

48 This SNP has been reported to be associated with decreased HDL cholesterol and increased severity of atherosclerosis in Table 1. subPSEC Scores and Probability of Functional Impairment (Pdeleterious) for ABCA1 Mutations and SNPs Mutations SNPs Variant SubPSEC Pdeleterious Variant subPSEC Pdeleterious P85L À4.62 0.83 R219K À0.57 0.08 H160F À2.79 0.45 V399A À2.26 0.32 R230C À4.27 0.78 V771M À2.86 0.46 A255T À1.81 0.23 T774P À1.99 0.27 E284K À2.34 0.34 K776N À3.53 0.63 Y482C À4.21 0.77 V825I À1.06 0.13 R587W À6.04 0.95 I883M À1.38 0.17 W590S À5.19 0.9 E1172D À1.96 0.26 W590L À4.48 0.82 R1587K À0.58 0.08 Q597R À7.15 0.98 S1731C À4.21 0.77 T929I À4.29 0.78 N935H À8.54 1 N935S À7.53 0.99 A937V À6.6 0.97 A1046D À7.52 0.99 M1091T À3.56 0.64 D1099Y À6.09 0.96 D1289N À2.48 0.37 L1379F À3.81 0.69 C1477R À5.44 0.92 S1506L À5.17 0.9 N1611D À5.69 0.94 R1680W À6.02 0.95 V1704D À3.21 0.55 N1800H À4.23 0.77 R1901S À5.06 0.89 F2009S À2.73 0.43 R2081W À8.08 0.99 P2150L À2.88 0.47 Q2196H À2.74 0.43 DOI: 10.1371/journal.pgen.0010083.t001 PLoS Genetics | www.plosgenetics.org December 2005 | Volume 1 | Issue 6 | e83 0740 Accurate Prediction of ABCA1 Variants Synopsis A major goal of human genetics research is to understand how genetic variation leads to differences in the function of genes. Login to comment

PMID: 12111381 [PubMed] Guo Z et al: "Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease."

No. Sentence Comment

4 The second patient was homozygous for a novel mutation of A3198C in exon 19, resulting in Asn935His. Login to comment
52 The A3198C mutation in exon 19 found in case 2 had resulted in a change of Asn935His. Login to comment
64 Case 2, homozygous for the AϾC mutation at 3198 (Asn935His), as shown in the left panel, was detected by PCR-RFLP using NlaIII digestion in the right panel. Login to comment
76 The second patient had a novel mutation of Asn935His. Login to comment