Table 1: Unknown mutations identified in the SORL1 gene

From: High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Patients IDcDNA level changeProtein level changeGERP scoreGrantham scorePathogenicity (MutationTaster)Pathogenicity (PolyPhen2)Pathogenicity (SIFT)SegregationProtein domain
ALZ 426c.422A>GTyr141Cys5.4194Disease-causing (0.89)Probably damaging (1)Deleterious (0.04)N.A.VPS10p
EXT 049c.1531G>CGly511Arg5.44125Disease-causing (0.85)Probably damaging (1)Deleterious (0.00)YesVPS10p
EXT 181c.2771A>GAsn924Ser5.5346Disease-causing (0.81)Benign (0.332)Tolerated (0.15)N.A.LDLR, YWTD repeat
EXT 077c.4073A>GAsn1358Ser−3.4346Disease-causing (0.56)Benign (0.01)Tolerated (0.27)N.A.LDLR, class A repeats
EXT 050c.4434C>ACys1478X1.37N.A.Disease-causing (1)N.A.N.A.N.A.LDLR, class A repeats
ALZ 244c.5042G>AGly1681Asp5.7794Disease-causing (0.63)Probably damaging (1)Deleterious (0.00)N.A.Fibronectin-type III repeats
EXT 017c.5463G>ATrp1821X5.91N.A.Disease-causing (1)N.A.N.A.N.A.Fibronectin-type III repeats
  1. Abbreviations: GERP, Genomic Evolutionary Rate Profiling; LDLR, low-density lipoprotein receptor; N.A., not applicable; YWTD, tyrosine-tryptophan-threonine-aspartic acid.