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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.
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BMC Medical Genetics

ISSN: 1471-2350

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