| 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 |