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Table 1 Rare SARM1 missense variants and in-frame deletions found in ALS patients

From: Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients

Variant

rsID

Percent Minor Allele Frequencya

Number of occurrences

  

African

East Asian

Europeanb

ALS patients

Controls

Constitutively active

 

Δ226–232

rs782325355

0

0

0.01

2d

0

Δ249–252

 

0

0

0

1d

0

V184G

rs71373646

0.007

0.006

0

3e

0

G206S

rs1555585199

0

0

0

2e

0

L223P

 

0

0

0

1d

0

R267W

rs11652384

0

0

0.001

1e

0

V331E

rs1555585331

0

0

0

1d

0

E340K

rs781854217

0

0

0.003

1d

0

C482Y

 

0

0

0

0

1d

T385A

 

0

0

0

1d

0

T502P

rs782421919

0

0

0.006

2d,f

0

E693D

rs782331635

0

0

0.005

0

2f

Not constitutively active

 

V112I

rs1032963037

0

0

0c

1d

0

A240E

rs1449836804

0

0

0.004

1d

0

R244S

 

0

0

0

1d

0

A250T

rs1555585243

0

0.06

0

1d

0

A275V

rs376587698

0

0

0.006

1d

0

R310H

rs369186722

0

0

0.01

1d

0

A341V

rs373458416

0

0

0.01

2d

0

R403P

rs782706244

0

0

0.0009

1f

0

Y429F

 

0

0

0

0

1d

E431G

rs1555585662

0

0

0.001

1d

0

R465T

 

0

0

0

1d

0

N478S

rs1555585804

0

0

0.001

0

1f

D483E

rs377210302

0

0

0.002

0

1f

R484C

rs1555585809

0

0

0.0009

1d

0

A488E

rs782228906

0.004

0

0.02

2d

0

V518L

rs782106973

0

0

0c

3d

0

S558N

 

0

0

0

0

1d

R569C

rs571724138

0

0

0.005

1d

0

R570Q

rs539229444

0

0.008

0.005

1e

0

I593T

rs782196205

0

0.005

0.002

0

1f

E604K

rs782398426

0.02

0.01

0.005

0

1f

M612V

rs782321764

0

0

0.004

0

2f

R615H

rs782753946

0.008

0

0.004

2f

1d

D637Y

rs1451417529

0

0

0

1d

0

A646S

rs782676389

0

0

0.0008

1d

0

V654M

rs782225125

0

0

0.002

0

2f

M672V

rs782774927

0

0

0.004

2e,f

0

S684F

rs782256561

0.004

0

0.004

1f

0

R697C

rs372946020

0.004

0

0.003

3f

1f

R702C

rs781850558

0

0.005

0.002

1f

0

  1. agnomAD v2
  2. bnon-Finnish
  3. cV518L = 0.009% and V112I = 0.001% in gnomAD v3 non-Finnish Europeans
  4. dMinE [37]
  5. eALS Variant Server [39]
  6. fALS Knowledge Portal [38]