PMID: 19606474

A survey of ABCA1 sequence variation confirms association with dementia.

Human mutation
CA Reynolds, MG Hong, UK Eriksson, K Blennow, AM Bennet, B Johansson, B Malmberg, S Berg, F Wiklund, M Gatz, NL Pedersen, JA Prince
2009-09

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-107589255-C-T ABCA1 c.2311G>A p.Val771Met Missense 16/50 -
9-107589255-C-G ABCA1 c.2311G>C p.Val771Leu Missense 16/50 -
9-107624029-C-G ABCA1 c.474G>C p.Leu158Leu Synonymous 6/50 -
9-107683636-T-C ABCA1 c.-93+6580A>G - intron_variant - 1/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107678446-G-A ABCA1 c.-93+11770C>T - intron_variant - 1/49
9-107624029-C-T ABCA1 c.474G>A p.Leu158Leu Synonymous 6/50 -
9-107644287-G-A ABCA1 c.421+1033C>T - IntronicSNV - 5/49
9-107598740-C-T ABCA1 c.1311+521G>A - IntronicSNV - 11/49
9-107601541-G-A ABCA1 c.1054+1019C>T - IntronicSNV - 9/49
9-107544700-C-T ABCA1 c.*1896G>A - 3-UTRSNV 50/50 -
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
9-107620867-C-T ABCA1 c.656G>A p.Arg219Lys Missense 7/50 -