This mutation was responsible for the familial disorder through the substitution of a highly conserved arginine to tryptophan at codon 198 ( p.R198W ) .
O O O O O O O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O B-SequenceVariant O O