Author Case number Molecular mutations within SMARCD2 gene Molecular mutations within SMARCD2 gene Molecular mutations within SMARCD2 gene Molecular mutations within SMARCD2 gene
Nucleotide change Protein change Type of mutation Location
Witzel, and Engelhardt et al2 Case 1 c.1181+1G>A Ile362Cysfs*3 Ser394Argfs*1 Ile362Valfs*85 SNS splice-site region of exon 9
Witzel et al1 Case 2 c.401+2T>C p.Arg73Valfs*8 SNS splice-site region of exon 2
Witzel et al21 Case 3 & 4 c.414_438dup* p.Gln147Glufs*5 Duplication (25-bp) Exon 2
Yucels et al3 Case 5 c. 93del p.Ala32Argfs*80 Deletion 1
Our case Case 6 c.217C>T c.1081del p.Arg73* p.Gln361Argfs*15 SNS Deletion Exon 2 Exon 8