Fig. 5: Relationship of dermatologic clinical traits and functional consequences of common MC1R missense variants. | Genetics in Medicine

Fig. 5: Relationship of dermatologic clinical traits and functional consequences of common MC1R missense variants.

From: Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

Fig. 5

(a) Plots of the odds ratio for dermatologic phenotypes versus EC50 for each common variant. The dotted line represents the EC50 for wild-type MC1R. (b) Plots of the odds ratio for dermatologic phenotypes versus maximum α-MSH induced cAMP for each common variant. Error bars represent 95% CI. The dotted line represents wild-type MC1R max cAMP (%L-858051). Symbols are color coded to match bars in Fig. 3.

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