Fig. 2From: Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variationA-B Three-dimensional structures of ALS2 [(A): wild-type, (B):c.1815G > T(p.Lys605Asn)mutant-type]; C in silico predictions. The impact of both of the ALS2 variants was predicted using five in silico toolsBack to article page