ABCMdb

PMID: 25875382

Tada H, Kawashiri MA, Nohara A, Saito R, Tanaka Y, Nomura A, Konno T, Sakata K, Fujino N, Takamura T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.
Atherosclerosis. 2015 Jun;240(2):324-9. doi: 10.1016/j.atherosclerosis.2015.04.003. Epub 2015 Apr 7., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCA1 p.Ser2046Asn ABCA1 p.Pro377Leu ABCA1 p.Pro2077His ABCA1 p.Gly948Arg Filtering assuming a recessive pattern of inheritance, combined with the use of the C-score, successfully narrowed down the candidates to compound heterozygous mutations in the ABCA1 gene (c.6230C > A or p.P2077H/c.6137G > A or p.S2046N, and c.2842G > A or p.G948R/c.1130C > T or p.P377L). Login to comment 93 ABCA1 p.Pro2077His Black indicates the carrier of c.6230C > A or P2077H. Login to comment 94 ABCA1 p.Ser2046Asn Gray indicates the carrier of c.6137G > A or S2046N. Login to comment 95 ABCA1 p.Gly948Arg Light blue indicates the carrier of c.2842G > A or G948R. Login to comment 96 ABCA1 p.Pro377Leu Light green indicates the carrier of c.1130C > T or P377L. Login to comment 104 ABCA1 p.Ser2046Asn ABCA1 p.Pro377Leu ABCA1 p.Pro2077His ABCA1 p.Gly948Arg Four out of seven variants (c.6230C > A or p.P2077H, c.6137G > A or p.S2046N, c.2842G > A or p.G948R, and c.1130C > T or p.P377L, all of those were variants in ABCA1 gene) were predicted to be damaging (scaled C-score > 10), which meant that those variants could be potentially causative mutations. Login to comment 139 ABCA1 p.Ser2046Asn ABCA1 p.Pro377Leu ABCA1 p.Pro2077His ABCA1 p.Gly948Arg Codon change Protein change Function CADD score Family (individual ID) chr5 140595355 PCDHB13 G T c.1660G > T A554S missense 3.305 Family 2 (LHDL4) chr6 1611407 FOXC1 G T c.728G > T A243S missense 4.256 Family 2 (LHDL4) chr9 107549232 ABCA1 C A c.6230C > A P2077H missense 18.61 Family 1 (LHDL1, LHDL3) chr9 107550268 ABCA1 G A c.6137G > A S2046N missense 36 Family 1 (LHDL2, LHDL3) chr9 107583774 ABCA1 G A c.2842G > A G948R missense 31 Family 2 (LHDL4) chr9 107599773 ABCA1 C T c.1130C > T P377L missense 25.9 Family 2 (LHDL4) chr22 38471068 PICK1 G A c.1177G > A G393R missense 2.236 Family 1 (LHDL1, LHDL2, LHDL3) Chr: chromosome, Pos: position, Ref: reference allele, Alt: alternate allele, CADD: combined annotation dependent depletion score, PCDHB13: Protocadherin beta-13, FOXC1: Forkhead box C1, ABCA1: ATP-binding cassette sub-family A member 1, PICK1: Protein interacting with C-kinase. Login to comment