Fig. 1: Facial phenotypes and distribution of observed PRKAR1B variants. | Genetics in Medicine

Fig. 1: Facial phenotypes and distribution of observed PRKAR1B variants.

From: Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Fig. 1: Facial phenotypes and distribution of observed PRKAR1B variants.

(a) Top left: individual 1 at the age of 3 years. Top right: individual 4 the age of 7 years. Bottom left: individual 5 the age of 7 years. Bottom right: individual 6 at the age of 3 years. (b) Distribution of the observed variants within the PRKAR1B gene. Exons are shown as boxes, introns as a blue line (introns are not to scale). Light blue color indicates protein-coding sequence. (c) Mutated amino acid (AA) positions within the R1β protein and number of affected individuals. A color shift to red indicates a higher degree of intolerance towards AA variation throughout evolution; according to the respective position’s evolutionary trace (ET) score (see Supplemental Methods for further details).

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