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 | Â | |||||
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 | Â | 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 | Â | 0 | 0 | 0 | 0 | 1d |
T385A | Â | 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 | Â | |||||
V112I | rs1032963037 | 0 | 0 | 0c | 1d | 0 |
A240E | rs1449836804 | 0 | 0 | 0.004 | 1d | 0 |
R244S | Â | 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 | Â | 0 | 0 | 0 | 0 | 1d |
E431G | rs1555585662 | 0 | 0 | 0.001 | 1d | 0 |
R465T | Â | 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 | Â | 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 |