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Annals of Clinical and Translational Neurology logoLink to Annals of Clinical and Translational Neurology
. 2019 Feb 25;6(2):416. doi: 10.1002/acn3.742

Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

PMCID: PMC6389743  PMID: 30847376

In Raghavan et al. (2018)1, Endnote citations from a previous draft of the paper were incorporated into the variant numbers of three of the variants, making these variant numbers incorrect. The corrected Table 3 is provided below.

Table 3.

SORL1 variants

Genomic Position Variant Type Variant Class CADD score Protein modification ExAC Global Frequency Case/ Control Sex Ethnicity Braak Stage Age at Onset or Last Visit
11‐121367577 snv SAV 26.6 NA 0 case F AA NA 77
11‐121367654 snv SG 37 p.Arg279* 0 case F NHW 6 72
11‐121421343 23 snv SG 39 p.Arg744* 0 case M NHW NA 65
11‐121421343 23 snv SG 39 p.Arg744* 0 case F NHW NA 67
11‐121426001 indel FV NA p.Asp850fs 0 case F NHW NA 60
11‐121428047 snv SG 41 p.Arg866* 0 case M NHW 6 65
11‐121430263 indel FV NA p.Ile983fs 0 ctrl M AA NA 64
11‐121440980 snv SDV 27.6 NA 4.95E‐05 case F CH NA 80
11‐121456930 snv SAV 26.8 NA 0 case M NHW NA 69
11‐121456930 snv SAV 26.8 NA 0 case M NHW 6 62
11‐121461788 indel FV NA p.Cys1431fs 0 case F NHW NA 61
11‐121466482 25 snv SDV 28 NA 0 case F NHW 3 90+
11‐121466482 25 snv SDV 28 NA 0 case F NHW NA 90+
11‐121474911 indel FV NA p.Thr1511fs 0 case M NHW NA 60
11‐121474984 snv SG 35 p.Cys1534* 0 case F NHW NA 74
11‐121477568 25 snv SG 46 p.Arg1655* 0 case M NHW NA 69
11‐121477667 snv SDV 26.9 NA 0 case F AA NA 68
11‐121485637 indel FV NA p.Asp1828fs 0 case M NHW NA 75
11‐121491801 indel FV NA p.Lys1975fs 0 case M NHW 6 61
11‐121500253 indel FV NA p.Met2211fs 0 case M NHW 6 62

Those in bold have previously been identified as indicated by the reference

SNV, Single Nucelotide Variant; Indel, Insertion or Deletion; CADD, Combined Annotation Dependent Depletion; FV, Frameshift Variant; SAV, Splice Acceptor Variant; SDV, Splice Donor Variant; SG, Stop Gained; AA, African American; CH, Carribean Hispanic; NHW, Non‐hispanic White

We apologize for this error.

Reference

  • 1. Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R and Alzheimer's Disease Sequencing Project . Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol 2018;5:832–842. 10.1002/acn3.582. [DOI] [PMC free article] [PubMed] [Google Scholar]

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