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. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: Ann Neurol. 2022 Jan 25;91(3):424–435. doi: 10.1002/ana.26302

Table 2.

Specific GBA mutations according to severity

Mutation Name
Risk variant E326K (53), E388K (1), T369M (28)
Mild N370S (33), R120W (3), L279P (1), S364N (1)
Severe L444P (5), RecNcil (3), IVS2+1 G>A (2), A456P (1), A456P, RecNcil (1), L444P/A456P (1), E326K/L444P (1), G115R/G193E (1), R463C/R463C (1), H255Q (1), L29AFs*18 (1), N370S/N370S (1), R131C (1)