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Table 2 Mutations detected in the Spanish adRP families

From: Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Exon DNA change Mutation Symptomatic carriers Asymptomatic carriers Total carriers
4 2177 C > T (CGA→TGA) Arg677Ter 5 3 8
4 2204C > T (CAA→TAA) Gln686Ter 2 2 4
4 2263delA Lys705fsX712 6 5 11
4 2313delAAinsG Lys722fsX737 3 3 6
4 2403C > T (ACG→ATG) Thr752Met* 1 - 1
  1. *This mutation does not appear to be pathogenic.