Table 1 Homozygous ACTL7A mutation identified in two brothers affected by male infertility.

Brothers 1 and 2
GeneACTL7A
Variant coordinates*Chr9:111625335, G>A
TranscriptNM_006687
cDNA mutationc.733G>A
Protein alterationp.Ala245Thr
Mutation typeMissense, homozygous
Allele frequencies in human populations
  Allele frequency in gnomAD4.068 × 10−6
  Number of homozygotes0
Conservation†
  Phastcons1
  Phylop4.084
Functional prediction
  PROVEANDeleterious
  PolyPhen-2Probably damaging
  MutationTasterDisease causing

*Variant coordinate is based on the human genome assembly GRCh37/h19.

†The Phastcons value is close to 1 when a nucleotide is conserved, and the predicted conserved sites are assigned positive scores by Phylop.