Table 1. Male exons tested for PLOD1, PLCZ1 mutation sites.
Gene Name Chromosome
location
Nucleic acid changes Amino acid change Exon
Introns
Heterozygosity Diseases and genetic patterns Pathogenicity
PLOD1 chr1:12027051 c.1658C>T p.P553L Exon 16 Hybridization Ehlers-Danlos syndrome type 6,
autosomal recessive inheritance
Clinical significance unclear
PLCZ1 chr12:18837072 c.1733T>C p.M578T Exon 14 Hybridization Type 17 spermatogenic dysfunction,
autosomal recessive inheritance
Clinical significance unclear
PLCZ1 chr12:18837072 c.471G>C p.M157I Exon 5 Hybridization Type 17 spermatogenic dysfunction,
autosomal recessive inheritance
Clinical significance unclear