A C-to-T transition mutation is present in the mutant transcript and produces a premature stop codon from an arginine codon 1160 in the part of the mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160 (p.R1160*). (J:21284)
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A C-to-T transition mutation is present in the mutant transcript and produces a premature stop codon from an arginine codon 1160 in the part of the mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160 (p.R1160*). (J:21284)