Skip to main content

Table 1 Genetic information of DNAH9 mutations of the two individuals

From: Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia

Individual F1 II-1 F2 II-1
cDNA mutation c.302dupT c.6956A > G c.6294 T > A c.10571 T > A
Mutation type frameshift nonsynonymous nonsynonymous nonsynonymous
Protein alteration p.Leu101fs*47 p.Asp2319Gly p.Phe2098Leu p.Leu3524Gln
Allele frequency in human population
1KGP 0 0 0 0
ExAc_all 0.0008 0.00002 0 0
gnomAD 0.0003 0.00002 0 0
Functional prediction
SIFT N/A D D D
PolyPhen-2 N/A D D D
MutationTaster N/A D D D
  1. RefSeq accession number of DNAH9 is NM_001372.4
  2. Abbreviations: 1KGP 1000 Genomes Project, ExAc_all all the data of Exome Aggregation Consortium, gnomAD the Genome Aggregation Database, N/A not applicable, D Disease-causing