ABCMdb

ABCA1 p.Ser2046Asn

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Publications

PMID: 25875382 [PubMed] Tada H et al: "Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene."

No. Sentence Comment

7 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
94 Gray indicates the carrier of c.6137G > A or S2046N. Login to comment
104 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 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