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Publication: Kashyap et al., 2026 - Novel MC1R variants cause red hair and lighter skin colour
All Figures: Figures for Kashyap et al., 2026

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Figure 1

Identification of the MC1R variant in an Indian child with the red hair color phenotype

(A) Family pedigree suggests an autosomal-recessive pattern of inheritance.

(B) A 5-year-old Indian child (proband; IV-2) with red hair and eyebrows and her sister (control; IV-1) with dark black hair.

(C) Variant prioritization steps to identify the red-hair-associated variant from whole-exome data of the child and her asymptomatic mother.

(D) Homology-based structure prediction of MC1R p.Ala291Asp variant showed an increased number of intramolecular interactions at the 291 position.

(E) Multiple sequence alignment of MC1R protein sequence from various vertebrate species suggests the evolutionary conservation of Ala residues at the 291 position in primates.

Acknowledgments

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