Table 3.
Location of nontruncating variants | Amino acids involvedb | No. of nontruncating variants | Nontruncating variants, % | TMEM127 amino acid sequence, % | P, Fisher exact test |
---|---|---|---|---|---|
TM1 | 30-53 | 7 | 15.2 | 10.1 | |
TM2 | 96-116 | 3 | 6.5 | 8.8 | |
TM3 | 130-150 | 11 | 23.9 | 8.8 | |
TM4 | 169-190 | 7 | 15.2 | 9.2 | |
No. of amino acids (all TM domains) | 88 | 28 | 52.8 | 37.0 | |
No. of amino acids (non-TM domains) | 150 | 18 | 34.0 | 63.0 | |
Total nontruncating variants | NA | 46 | .0117 |
Abbreviations: NA, not available; TM, transmembrane domain; TMEM127, transmembrane protein 127 gene.
a Missense or in-frame insertions or deletions.
b The limits of each transmembrane domain are estimated based on consensus in silico and experimental predictions; precise limits will require crystal structure models, which are currently unavailable for TMEM127.