Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations

Table 1 Identification of Homozygous SLO3 Variant in the Subject with Severe Asthenoteratozoospermia

*SLO3* Variant Information	Subject A-132
cDNA alteration	c.1237A > T
Variant allele	Homozygous
Protein alteration	p. Ile413Phe
Variant type	Missense variant
Allele Frequency in Human Populations
1KGP	0.0000122861
East Asians in gnomAD	0.0048076
All individuals in gnomAD	0.00004215
Function Prediction
SIFT	damaging
PolyPhen-2	damaging
MutationTaster	disease causing

NCBI reference sequence accession number of SLO3 is NM_001008723.2
Abbreviations: 1KGP 1000 Genomes Project, gnomAD Genome Aggregation Database

ISSN: 1477-7827