Table 1 Genetic information of SPAG6 variants of the patients
From: Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF
Subject | F1 II-1 | F2 II-1 |
|---|---|---|
cDNA mutation | c.308C > A | c. 585delA |
Exon | Exon 4 | Exon 5 |
Mutation type | nonsynonymous | Frameshift deletion |
Protein alteration | p. Ala103Asp | p. Lys196Serfs*6 |
Allele frequency in human population | ||
1KGP | NA | NA |
ExAc_all | NA | 8.25 x 10-6 |
gnomAD | NA | 4.07 x 10-6 |
Deleterious prediction | ||
SIFT | D | NA |
PolyPhen-2 | D | NA |
Mutation Taster | D | NA |