Table 3 Selection of twelve PD samples with varying GBA1 variant frequencies.

From: False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

Sample

GBA1 (HGVS)

GBA1 (allelic name)

Variant frequency

1

p.(Glu365Lys)

E326K

100

2

p.(Glu365Lys)

E326K

97.8

3

p.(Glu365Lys)

E326K

47.4

4

p.(Glu365Lys)

E326K

50.9

5

p.(Glu365Lys)

E326K

9.3

6

p.([Leu363Pro];[Thr408Met])

T369M; L324P

50.5; 47.5

7

p.(Thr408Met)

T369M

87.4

8

p.(Leu483Pro)

L444P

9.6

9

p.(Glu365Lys)

E326K

10.6

10

p.(Glu365Lys)

E326K

5.2

11

p.(Glu365Lys)

E326K

3.7

12

p.(Asn409Ser)

N370S

50.9

  1. Samples 5, 8, 9, 10 and 11 have an abnormally low variant frequency and sample 7 has a frequency too high for a normal heterozygous and too low for a normal homozygous variant. Sample 6 is compound heterozygous (T369M on one allele and L324P on the other allele). Both the HGVS nomenclature is given and the GBA1 allelic name, which excludes the 39-amino acid signaling peptide, both using accession NP_000148.2
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