Fig. 2
From: Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Identified variations in LYST gene. a. Reported intron mutation (c.4863-4G > A) in exon15, inherited from father. b. Novel missense mutation (c.5719A > G) in exon19, inherited from mother. Mutations are marked with red arrow. Zygosity is showed by letters of degenerate bases (Y for C/T, R for A/G)