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. 2022 Jan 3;20:5. doi: 10.1186/s12958-021-00880-4

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