Table 1 Two haplotypes harboring GNE c.620A>T.

From: Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

  

Age at onset (years)

Common variant haplotypes

Risk locus

Haplotype set

Position in chromosome 9

36,214,971

36,216,426

36,217,798

36,220,134

36,246,117

c.620A>T homozygotes

P1

Late 30 s

G

G

G

G

G

G

C

C

A

A

α/α

P2

Mid-30 s

G

G

G

G

G

G

C

C

A

A

α/α

P3

Early 60 s

A

A

A

A

A

A

T

T

A

A

β/β

H1

Healthy

A

A

A

A

A

A

T

T

A

A

β/β

c.620A>T/c.1807G>C compound heterozygous patients

P4–22

34.8 ± 8.8

G

G

G

G

G

G

C

T

A

T

α/–

P23–29

36.7 ± 12.2

A

G

A

G

A

G

T

T

A

T

β/–

c.620A>T heterozygous healthy individuals

U1–7

Healthy

G

G

G

G

G

G

C

T

A

T

α/–

U8–9

Healthy

A

G

A

G

A

G

T

T

A

T

β/–

  1. Bases altered from the reference sequence are underlined and in bold. P1–3: three patients homozygous for c.620A>T. H1: healthy individual homozygous for c.620A>T. P4–13: ten patients with compound heterozygous c.620A>T/c.1807G>C alleles. U1–9: individuals carrying c.620A>T from public data (U1–6 from the Biobank Japan Database, U7–9 from the Nagahama cohort study).
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