Table 1 of Xu, Mol Vis 2012; 18:3021-3028.


Table 1. Four PRPF31 mutations identified in a Chinese adRP cohort.

Families Exon Nucleotide exchange Protein effect Information about penetrance
ADRP-HT 3 c.196_197delAA# K66DfsX2 segregates
ADRP-LG 7 c.544_618del75 bp# E182_E206del incomplete
ADRP-LLN 7 c.615delC# p.Y205* segregates
ADRP-XL 9 c.895T>C [7] p.C299R incomplete