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Figure 1 | Molecular Autism

Figure 1

From: Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case–control study in a Japanese population and functional analysis

Figure 1

Triallelic variation rs35062132 in the human OXTR gene. (A) Structure of the human OXTR gene and amino acid sequence of the C-terminal portion of the human OXTR. White and black blocks represent untranslated regions and protein-coding regions, respectively, and red letters represent minor amino acid variations. Indicated in the protein-coding region are rs4686302, rs151257822, and rs35062132, in which allelic heterozygosity was detected in this study. The region required for coupling to Gq isunderlined; potential PKC phosphorylation sites are indicated by boxes, and Ser triplets are double underlined. (B) Representative electrophoretograms of the rs35062132 (c.1126C>G/T; R376G/C). Left, homozygote for the common allele (376R/376R); middle, heterozygous carrier of c.1126C>G (376R/376G); right, heterozygous carrier of c.1126C>T (376R/376C). Arrows indicate the polymorphic position. Nucleotides and amino acids for minor alleles are shown in red.

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Molecular Autism

ISSN: 2040-2392