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Nucleotide change leading to p.L830F mutation and protein residue conservation. The c.3015C>T nucleotide change in exon 7 is illustrated in the AR gene partial electropherogram: (A) normal sequence; (B) hemizygous mutant sequence from the index case III-10. (C) Part of multiple sequence alignment for the human AR protein and other mammalian AR proteins; the residue 830 is depicted in red for all species.
