Figure 1
From: Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
Identification of a novel mutation in the GLRA1 gene and genetic screening of the affected family. (a) Direct sequencing of our patient (II/2) DNA revealed a novel heterozygous missense mutation in exon 3 of the GLRA1 gene. (b) The clinically unaffected family members (I/1, I/2 and II/1) carry only the wild-type sequence, suggesting a de novo mutation. (c) Comparison of GLRA1 protein sequences in the region of the mutation (p.Ile71Phe) from different species indicates that the region is highly conserved. (d) Genetic analysis of the affected family suggests that the identified sequence alteration is a de novo mutation.