ABCMdb

PMID: 12009425

Ho Hong S, Rhyne J, Zeller K, Miller M
Novel ABCA1 compound variant associated with HDL cholesterol deficiency.
Biochim Biophys Acta. 2002 May 21;1587(1):60-4., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA1 p.Asp1099Tyr One mutation was a G3295T substitution with conversion of asparagine to tyrosine (D1099Y) in ABCA1. Login to comment 5 ABCA1 p.Phe2009Ser The proband and affected individuals having another mutation were heterozygotes for T5966C with phenylalanine converted to serine (F2009S). Login to comment 43 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser Pedigree of the kindred showing HDL segregation of D1099Y and F2009S mutations. Login to comment 44 ABCA1 p.Asp1099Tyr ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser Horizontal line symbols indicates heterozygote carrier status for the D1099Y mutation. Login to comment 45 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The heterozygous subjects for F2009S mutation are indicated by vertical line symbols. Login to comment 46 ABCA1 p.Phe2009Ser The heterozygous subjects for F2009S mutation are indicated by vertical line symbols. Login to comment 68 ABCA1 p.Asp1099Tyr Results and discussion The first mutation was heterozygous for a G3295T substitution that changes asparagine to tyrosine (D1099Y). Login to comment 69 ABCA1 p.Asp1099Tyr Results and discussion The first mutation was heterozygous for a G3295T substitution that changes asparagine to tyrosine (D1099Y). Login to comment 71 ABCA1 p.Phe2009Ser The proband and affected individuals having another mutation were heterozygotes for T5966C with phenylalanine converted to serine (F2009S). Login to comment 72 ABCA1 p.Phe2009Ser The proband and affected individuals having another mutation were heterozygotes for T5966C with phenylalanine converted to serine (F2009S). Login to comment 73 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The proband had a compound mutation for D1099Y and F2009S (Fig. 1, arrow). Login to comment 74 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The proband had a compound mutation for D1099Y and F2009S (Fig. 1, arrow). Login to comment 76 ABCA1 p.Asp1099Tyr Significant differences between (+) and ( À ) subjects of D1099Y mutation were noted for HDL cholesterol [(+), 27.3 F 14.6 vs. ( À ), 47.0 F 12.9 mg/dl; P < 0.001] and apoA-I [(+), 83.0 F 40.8 vs. ( À ), 125.4 F 23.7 mg/dl; P < 0.001] levels. Login to comment 77 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The F2009S mutation was also associated with low HDL cholesterol [(+), 17.0 F 18.4 vs. ( À ), 40.6 F 13.9 mg/dl; P < 0.05] and apoA-I [(+), 54.0 F 65.1 vs. ( À ) 114.0 F 28.4 mg/dl; P < 0.05] levels. Login to comment 78 ABCA1 p.Phe2009Ser The F2009S mutation was also associated with low HDL cholesterol [(+), 17.0 F 18.4 vs. ( ), 40.6 F 13.9 mg/dl; P < 0.05] and apoA-I [(+), 54.0 F 65.1 vs. ( ) 114.0 F 28.4 mg/dl; P < 0.05] levels. Login to comment 79 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The amino acids at the D1099Y and F2009S mutation sites are conserved between human and mouse, indicating a potentially important biological function. Login to comment 80 ABCA1 p.Asp1099Tyr ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The D1099Y Table 2 Positions of ABCA1 exons and sequences of oligonucleotide primers Exon Sequence Annealing Tm (jC) 5 5V-CACTTGGCAGTCACTTCTGT-3V 56 5V-ACGGATGCAGAGAAGGTT-3V 6 5V-TCCTGATATGGCGATGCTCC-3V 56 5V-TGAGGAAGCTGGAGGCATCA-3V 9 5V-CGCCAGCTGTTCAGCATGAG-3V 55 5V-CATCTTCCTCAGTGCCATTG-3V 12 5V-GGATGGCTTAGATTGGACAG-3V 55 5V-CATGAAGCGAGATATGGTCC-3V 17 5V-CAGAGCCTGCTGTCTCCTGT-3V 55 5V-AGACAGCCTCAATGTACCAG-3V 21 5V-CAGGCTGACTGTCGAAGA-3V 55 5V-CCTGACAGCTGGCTTGTT-3V 23 5V-GGCCGCACCATTATTCTCTCT-3V 55 5V-CAGCTCACCTTTTTCAGGTA-3V 25 5V-TGTCTCTGCTATCTCCAACC-3V 55 5V-GTCGTCTCTGAGATGCCATA-3V 27 5V-TCCTTGTGCCTTCAGATGGT-3V 55 5V-GGATCAGCAGCATCATCTTC-3V 28 5V-TGGCTTCTTGCAGAATCC-3V 54 5V-GACTCCGTCTGGCAATTA-3V 29 5V-AGATTGTCTTGCCAGCTGTG-3V 55 5V-CTGTTCGTTGTACATCCAGG-3V 36 5V-CTGGCATGCAATCAGCTCTT-3V 55 5V-ACCTCTGAGAGCTGCTGCTT-3V 37 5V-TTCTCTCCAGGATGACCACA-3V 55 5V-AGAGAGCCAGTAGATGACAG-3V 39 5V-TTGTGTCTCAACAGGTGGTC-3V 55 5V-ACATTGTCGGTGAACAGCTC-3V Exons of the ABCA1 gene are designated by the nomenclature of Santamarina-Fojo et al. [17]. Login to comment 81 ABCA1 p.Asp1099Tyr The D1099Y Table 2 Positions of ABCA1 exons and sequences of oligonucleotide primers Exon Sequence Annealing Tm (jC) 5 5V-CACTTGGCAGTCACTTCTGT-3V 56 5V-ACGGATGCAGAGAAGGTT-3V 6 5V-TCCTGATATGGCGATGCTCC-3V 56 5V-TGAGGAAGCTGGAGGCATCA-3V 9 5V-CGCCAGCTGTTCAGCATGAG-3V 55 5V-CATCTTCCTCAGTGCCATTG-3V 12 5V-GGATGGCTTAGATTGGACAG-3V 55 5V-CATGAAGCGAGATATGGTCC-3V 17 5V-CAGAGCCTGCTGTCTCCTGT-3V 55 5V-AGACAGCCTCAATGTACCAG-3V 21 5V-CAGGCTGACTGTCGAAGA-3V 55 5V-CCTGACAGCTGGCTTGTT-3V 23 5V-GGCCGCACCATTATTCTCTCT-3V 55 5V-CAGCTCACCTTTTTCAGGTA-3V 25 5V-TGTCTCTGCTATCTCCAACC-3V 55 5V-GTCGTCTCTGAGATGCCATA-3V 27 5V-TCCTTGTGCCTTCAGATGGT-3V 55 5V-GGATCAGCAGCATCATCTTC-3V 28 5V-TGGCTTCTTGCAGAATCC-3V 54 5V-GACTCCGTCTGGCAATTA-3V 29 5V-AGATTGTCTTGCCAGCTGTG-3V 55 5V-CTGTTCGTTGTACATCCAGG-3V 36 5V-CTGGCATGCAATCAGCTCTT-3V 55 5V-ACCTCTGAGAGCTGCTGCTT-3V 37 5V-TTCTCTCCAGGATGACCACA-3V 55 5V-AGAGAGCCAGTAGATGACAG-3V 39 5V-TTGTGTCTCAACAGGTGGTC-3V 55 5V-ACATTGTCGGTGAACAGCTC-3V Exons of the ABCA1 gene are designated by the nomenclature of Santamarina-Fojo et al. [17]. Login to comment 82 ABCA1 p.Phe2009Ser On the other hand, the region affected by F2009S mutation is within the C-terminal NBD. Login to comment 83 ABCA1 p.Phe2009Ser On the other hand, the region affected by F2009S mutation is within the C-terminal NBD. Login to comment 89 ABCA1 p.Asp1099Tyr While five additional members of this kindred are heterozygous for the D1099Y allele, they are relatively or considerably younger and have not yet manifested CVD. Login to comment 90 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Tyr One carrier member for F2009Y heterozygous mutation also had no cardiovascular symptom and is younger. Login to comment 91 ABCA1 p.Phe2009Tyr One carrier member for F2009Y heterozygous mutation also had no cardiovascular symptom and is younger. Login to comment