Fig. 3

Schematic of the LAMA2 disease-causing variants. a The domain structure of laminin-α2 is illustrated. Disease-causing variants (except copy number variations) including 44 novel disease-causing variants and 36 disease-causing variants first reported in our previous works in our cohort are above the chain, and other known disease-causing variants are below. b Four novel missense variants (p.Q111P, p.S146Y, p.C515Y, p.H1302Y) and two known missense variants (p.R148Q, p.E2796D) are predicted by modeling three-dimension structure of the protein. α I laminin helical coiled-coil domain I, α II laminin helical coiled-coil domain II, IV laminin IV type A1 or A2, LN laminin N-terminal