Lesion within Khc-73 exon 3; results in a change to 6 amino acids and introduces an early stop codon.
TATAATGCGTGCATATTC is replaced with TTACGGCCAGACAGGTGA in the third coding exon of Khc-73, which introduces an early stop codon (YNACIF is replaced with LRPDR*).
TTACGGCCAGACAGGTGA