The single nucleotide substitution I280S ( 1123T -- > G ) was present either on both alleles or in a hemizygous form with complete deletion of the second allele .
O O O O B-SequenceVariant O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O O O O O O O O O O O O O