ABCA1 p.Gln2196His
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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 0;5.17 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.
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ABCA1 p.Gln2196His 16429166:48:976
status: NEWX
ABCA1 p.Gln2196His 16429166:48:1171
status: NEW
PMID: 15019541
[PubMed]
Pisciotta L et al: "Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders."
No.
Sentence
Comment
2
Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1.
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ABCA1 p.Gln2196His 15019541:2:187
status: NEW69 The proband of Family 4 (the only family member available for the study) was a carrier of an ABCA1 mutation (Q2196H).
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ABCA1 p.Gln2196His 15019541:69:109
status: NEW129 Transversion c.6588 G > C in exon 49 (Q2196H) A 219 bp fragment of exon 49 was amplified using a canonic forward primer: 5 -CCT GCT TTC AGG TTT GGA GAT G-3 and a mismatched reverse primer: 5 -CTA TGT GGA GTC GCT TTC AGC T-3 .
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ABCA1 p.Gln2196His 15019541:129:38
status: NEW160 The sequence of ABCA1 gene showed that the proband was heterozygous for a transversion c.6588 G > C (Q2196H) in exon 49 (Fig. 4).
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ABCA1 p.Gln2196His 15019541:160:101
status: NEW164 II.2 W/W 43 M 28.0 5.10 3.70 0.96 0.80 104 98 ε3ε4 III.3 M2/W 9 M - 3.00 1.94 0.75 0.70 92 52 ε3ε4 Family 4 II.1 M4/W 62 M 23.3 4.45 2.71 0.72 2.21 102 92 ε3ε3 +++ Family 5 II.1a M5/W 59 M 36.7 7.16 6.02 0.52 1.71 81 133 ε3ε4 +++ III.1a W/W 33 F 21.8 7.52 5.02 1.99 1.13 162 112 ε4ε4 III.2 M5/W 31 F 22.8 4.68 3.28 0.85 1.18 92 82 ε3ε4 III.3 M5/W 31 F 24.4 4.00 2.74 0.90 0.78 97 72 ε3ε4 Family 6 I.2 M6/W 53 F 40.2 4.76 3.00 1.16 1.31 104 81 ε3ε3 II.1 W/W 41 M 27.5 6.54 4.35 1.19 2.20 141 148 ε3ε4 II.2 M6/W 39 M 26.2 3.57 2.44 0.77 0.77 93 71 ε3ε4 II.3 M6/W 37 F 21.3 4.44 2.63 0.76 2.30 85 89 ε3ε4 II.4 M7/W 37 M 18.8 3.67 2.43 1.00 0.50 89 57 ε3ε3 III.1 M6/M7 16 F 25.4 3.33 2.45 0.18 1.55 12 102 ε3ε3 III.2 M7/W 10 F 14.2 2.66 1.34 0.98 0.76 103 38 ε3ε3 W, ABCA1 wild-type allele; M, ABCA1 mutant allele: M1 (E284K); M2 (N1800H); M3 (Y482C); M4 (Q2196H); M5 (R557X); M6 (H160FsX173); M7 (R1901S); ND: not determined.
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ABCA1 p.Gln2196His 15019541:164:992
status: NEWX
ABCA1 p.Gln2196His 15019541:164:1020
status: NEW200 of our series (Families 2 and 3), we are tempted to suggest that N1800H might be a recurrent mutation.
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ABCA1 p.Gln2196His 15019541:200:241
status: NEW201 The novel mutations we identified included: (a) one non-sense (R557X) and one frameshift (H160FsX173) mutation, both predicted to encode short peptides presumably devoid of any function; (b) four missense mutations (E284K, Y482C, R1901S and Q2196H) resulting in non-homologous amino acid substitutions.
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ABCA1 p.Gln2196His 15019541:201:241
status: NEW208 Interestingly, a cysteine for arginine substitution in the first extracellular loop (R230C) was reported in three Oji-Cree subjects with very low plasma HDL levels [11].
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ABCA1 p.Gln2196His 15019541:208:45
status: NEW209 The other two missence mutations (R1901S and Q2196H) we found in our patients are located in the C-terminal cytoplasmic region close to the NBD-2 domain.
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ABCA1 p.Gln2196His 15019541:209:45
status: NEW