Nucleotide substitution: A1490C.
Amino acid replacement: K192T.
2 length polymorphisms exist. One in the adult intron between nucleotides 447 and 477, a 34bp insertion of a tandemly repeated unit associated with a 29bp deletion so net increase is 5 bp. The second length polymorphism is 37bp inserted at nucleotide position 550-551.
Amino acid replacement: K192T. Nucleotide substitution: A713C.
Johnson and Denniston.