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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Figure 2

Overview of the missense variant reported in GRIA3 in a Finnish Family with XLID. a) Family pedigree showing the inheritance of the GRIA3 mutation, open circles denote females; circles with a dot in the middle denote obligate carrier females, empty square denote males, the left half of the black squares denote affected males, the right half of the squares denote mutation positive males, crossed symbols denote deceased individuals, wt denote mutation negative subject, b) Photographs of the affected males, c) Sanger sequencing confirming the mutation, d) Multiple species protein sequence alignment showing conservation of the mutated G630 residue.

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