A G-to-A transition in exon 14 produces a premature stop codon at amino acid position 633 resulting in a protein product truncated by 68 amino acids. The mutated transcript can be found in the skin of homozygotes. (J:119554)
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A G-to-A transition in exon 14 produces a premature stop codon at amino acid position 633 resulting in a protein product truncated by 68 amino acids. The mutated transcript can be found in the skin of homozygotes. (J:119554)