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Table 2 Variants in GBA that had a call-rate of 90% or over in the DLB cohort

From: Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Variant

Annotation

Heterozygous DLB cases

DLB MAF

MAF in- house controls (n = 432)

gnomAD NFE AF

gnomAD NFE AC, AN (number of homozygotes)

1:155205518 C/G (rs1064651)

p.Asp448His

missense variant

2

0.000991

0

0.000179, failed quality filters

AC = 23, AN = 128,640 (0)

1:155205563 C/A (rs80356769)

p.Val433Leu

missense variant

2

0.000991

0

0

AC = 0, AN = 113,740 (0)

1:155205581 C/T (rs149171124)

p.Glu427Lys

missense variant

2

0.000991

0

0.000263

AC = 34, AN = 129,176 (0)

1:155205632 GGTT/G

p.Asn409del

inframe deletion & splice region variant

1

0.000547

0

0

NA

1:155205634 T/C (rs76763715)

p.Asn409Ser

missense variant & splice region variant

19

0.009958

0.0023202

0.002045

AC = 264, AN = 129,124 (2)

1:155205638 A/G (rs377143075)

c.1225-3 T > C

splice region variant & intron variant

1

0.000529

0

0.000093

AC = 12, AN = 129,160 (0)

1:155206117 A/G (rs755021234)

p.Cys381Cys

synonymous variant

1

0.000496

0

0.000009

AC = 1, AN = 113,740 (0)

1:155206157 C/T (rs1064648)

p.Arg368His

missense variant

1

0.000496

0

0.000101

AC = 13, AN = 129,174 (0)

1:155206167 C/T (rs2230288)

p.Glu365Lys

missense variant

75

0.039187

0.01042

0.012340

AC = 1594, AN = 129,170 (11)

1:155206187 G/A

p.Pro358Leu

missense variant

1

0.000496

0

0

NA

1:155206200 C/G (rs398123526)

p.Asp354His

missense variant

1

0.000496

0

0.000026

AC = 3, AN = 113,764 (0)

1:155206262 T/G

c.1000-2A > C

splice acceptor variant & intron variant

1

0.000496

0

0.000000

NA

1:155207965 C/T (rs409652)

p.Gly241Arg

missense variant

2

0.000992

0

0.000035

AC = 4, AN = 113,766 (0)

1:155208060 C/G

p.Arg209Pro

missense variant

1

0.000496

0

0

NA

1:155209539 G/A (rs368145008)

p.Leu108Leu

synonymous variant

1

0.000520

0

0.000023

AC = 3, AN = 129,172 (0)

1:155209737 G/A (rs1141812)

p.Arg83Cys

missense variant

2

0.000992

0

0.000054

AC = 7, AN = 129,080 (0)

1:155210918 T/C (rs41264927)

c.-15A > G

5 prime UTR premature start codon gain variant

2

0.000991

0

0.001641

AC = 212, AN = 129,174 (0)

  1. All variants were found in the heterozygous state, apart from the variant in bold, p.Glu365Lys, which was found as a homozygous variant in 2 DLB cases. The frequency of these variants are also reported in 432 in-house controls who died aged 60 or over without disease neuropathology. MAF Minor Allele Frequency, gnomAD NFE Non-Finnish European, AC Allele Count, AN Allele Number
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Acta Neuropathologica Communications

ISSN: 2051-5960

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