A spontaneous missense mutation, c.1061G>A (AGC>ATC codon change in exon 4), results in a serine-to-isoleucine substitution at amino acid 354 of the encoded protein (p.S354I), which affects hair growth pattern. (J:340722)
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A spontaneous missense mutation, c.1061G>A (AGC>ATC codon change in exon 4), results in a serine-to-isoleucine substitution at amino acid 354 of the encoded protein (p.S354I), which affects hair growth pattern. (J:340722)