tokens: These analyses identified two novel single - nucleotide polymorphisms ( INV4 + 31A - - > G and INV11 + 18A - - > G ) and six novel AKU mutations ( INV1 - 1G - - > A , W60G , Y62C , A122D , P230T , and D291E ) , which further illustrates the remarkable allelic heterogeneity found in AKU .