Fig. 1
From: Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF
Variants of SPAG6 in the two patients with MMAF from two consanguineous families. A-B Pedigrees of the two families affected by the variants in SPAG6. The brown arrow and red dotted line show mutated locations in the validation of Sanger sequencing. C a schematic diagram of mutated positions occurred in the SPAG6 protein. The mutated positions of SPAG6 are conserved among species. The green boxes indicate the armadillo-type repeats domains of SPAG6 protein. WT, wild type; M, SPAG6 mutations; MMAF: multiple morphological abnormalities of the sperm flagella