Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

Figure 4

Schematic presentation of RP1 disease causing mutations. Disease causing mutations were represented based on the classification by Chen and coworkers [13]. Mutations responsible for recessive arRCD were shown in the upper half, whereas mutations causing adRCD were shown in the lower half. p.Gly402Alafs, p.Lys443Asnfs, p.Arg1364Valfs, and p.Ser1529Argfs belong to class III. Although p.Ser574Cysfs, p.Ser676Ilefs, p.Arg793Glufs, and p.Asp are class II mutations, these variants do not cause adRCD but arRCD instead. Amino acid modifications shown in red and blue represent novel frameshift or nonsense mutations and the recurrent p.Ser mutation respectively. Protein localization of p.Ser was highlighted in blue as it marked a recurrent mutation. adRCD: autosomal dominant: rod-cone dystrophy, arRCD: autosomal recessive rod-cone dystrophy, BIF: drosophila melanogaster bifocal.