sequencing analysis of the amplified dna from three different patients with hprt deficiency implied three unique molecular abnormalities : 1 ) one single-base substitution at codon 54 ( from atg to ctg ) resulting in the replacement of methionine with leucine in an ln patient , 2 ) two single-base substitutions at codon 179 ( from gtt to ggt ) and at codon 180 ( from gga to aga ) resulting in the replacement of valine with glycine and glycine with arginine in a gouty patient , and 3 ) 51 nucleotide deletion between nucleotides 747 and 797 resulting in the formation of shorter sized hprt mrna and putative two amino-acid deleted hprt protein in another gouty patient .
C0017890
glycine
C0002520
amino-acid