Table 1. Variants identified in DNAAF1 through target gene NGS.
| No. | Nucleotide Changea (rs ID) | AA Changeb | Property Changec | Conservationd | Domaine | REFQf (1–8: Case 9-12: Control) | ExACg | ESPh |
|---|---|---|---|---|---|---|---|---|
| 1 | c.371A > G | p.Asn124Ser | Polar (neutral) → polar (neutral) | Yes | Leucine-rich repeat | 1/371 | — | — |
| 2 | c.691A > C | p.Lys231Gln | Basic polar (positive) → polar (neutral) | Yes | Leucine-rich repeat | 1/372 | — | — |
| 3 | c.1022_1023delAA | p.Gln341Argfs*10 | 350 aa → premature termination codon | — | — | 1/371 | — | — |
| 4 | c.1135G > T | p.Val379Phe | Nonpolar (neutral) → nonpolar (neutral) | Yes | — | 1/357 | — | — |
| 5 | c.1786G > C | p.Glu596Gln | Acidic polar (negative) → polar (neutral) | Yes | — | 1/372 | — | — |
| 6 | c.1853G > A (rs372901697) | p.Arg618Gln | Basic polar (positive) → polar (neutral) | No | — | 1/362 | 6/120260 | 1/12999 |
| 7 | c.2054C > T | p.Ala685Val | Nonpolar (neutral) → nonpolar (neutral) | No | — | 1/368 | — | — |
| 8 | c.2060C > T | p.Ser687Phe | Polar (neutral) → nonpolar (neutral) | No | — | 2/367 | — | — |
| 9 | c.446C > T | p.Ala149Val | Nonpolar (neutral) → nonpolar (neutral) | Yes | Leucine-rich repeat | 1/221 | 1/121406 | — |
| 10 | c.721C > G | p.Leu241Val | Nonpolar (neutral) → nonpolar (neutral) | Yes | Leucine-rich repeat | 1/221 | — | — |
| 11 | c.1586C > G | p.Thr529Arg | Polar (neutral) → basic polar (positive) | No | — | 1/221 | — | — |
| 12 | c.2099C > A | p.Thr700Lys | Polar (neutral) → basic polar (positive) | No | — | 1/219 | 1/121242 | — |
a
DNAAF1 GenBank RefSeq nos. NM_178452.4 and NG_021174.1. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon 1 in the reference sequence.
b
The position of the mutations is given with reference to sequence accession NP_848547.4 for the protein.
c
Amino acid residue property change.
d
Amino acid residue evolutionary conservation.
e
Location in protein secondary structure.
f
Number of mutation carriers in case or control.
g
The Exome Aggregation Consortium: http://exac.broadinstitute.org.
h
NHLBI Exome Sequencing Project: http://evs.gs.washington.edu/EVS.