Table 1.
Bi-allelic TTC21A Mutations Identified in Chinese Men with Asthenoteratospermia
| Gene |
Subject |
|||
|---|---|---|---|---|
|
A004 IV-1 |
A015 II-1 |
S022 II-1 |
||
| TTC21A | TTC21A | TTC21A | TTC21A | |
| DNA changea | c.716+1G>A (homozygous) | c.341A>G (allele 1) | c.2329C>T (allele 2) | c.2563del (homozygous) |
| Amino acid alterationb | p.Ile240∗ | p.Tyr114Cys | p.Gln777∗ | p.Val855∗ |
| Mutation type | splice site | missense | nonsense | nonsense |
| Allele Frequency in Human Populations | ||||
| East Asians in ExAC | 0 | 1.2 × 10−4 | 0 | 0 |
| Han Chinese in 1000 Genomes Project | 0 | 0 | 0 | 0 |
| Han Chinese controlsc | 0 | 0 | 0 | 0 |
| Conservationd | ||||
| PhyloP | 5.292 | 4.669 | 0.481 | 2.439 |
| PhastCons | 1.000 | 1.000 | 1.000 | 0.116 |
| Functional Prediction | ||||
| SIFT | N/A | damaging | N/A | N/A |
| PolyPhen-2 | N/A | probably damaging | N/A | N/A |
| MutationTaster | N/A | disease causing | disease causing | N/A |
Abbreviations are as follows: N/A = not applicable.
a
The accession number of human TTC21A is GenBank: NM_145755.2.
b
Full-length TTC21A has 1,320 amino acids.
c
The Han Chinese controls consist of 300 fertile individuals and 668 individuals affected by non-reproductive disorders.
d
The PhastCons value is close to 1 when a nucleotide is conserved, and the predicted conserved sites are assigned positive scores by PhyloP.